USH2A (usherin) - Rat Genome Database

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Gene: USH2A (usherin) Homo sapiens
Analyze
Symbol: USH2A
Name: usherin
RGD ID: 736503
HGNC Page HGNC:12601
Description: Enables collagen binding activity. Involved in several processes, including maintenance of animal organ identity; photoreceptor cell maintenance; and sensory perception of sound. Located in basement membrane and cytoplasm. Implicated in Usher syndrome (multiple); nonsyndromic deafness; and retinitis pigmentosa (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dJ1111A8.1; RP39; US2; USH2; usher syndrome 2A; Usher syndrome 2A (autosomal recessive, mild); usher syndrome type IIa protein; usher syndrome type-2A protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381215,622,891 - 216,423,448 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1215,622,891 - 216,423,448 (-)EnsemblGRCh38hg38GRCh38
GRCh371215,796,233 - 216,596,790 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361213,862,859 - 214,663,361 (-)NCBINCBI36Build 36hg18NCBI36
Build 341212,735,682 - 212,985,133NCBI
Celera1189,020,056 - 189,820,422 (-)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1186,470,498 - 187,272,188 (-)NCBIHuRef
CHM1_11217,068,567 - 217,869,890 (-)NCBICHM1_1
T2T-CHM13v2.01214,863,291 - 215,663,779 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal fundus morphology  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal upper limb bone morphology  (IAGP)
Abnormality of dental color  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the ear  (IAGP)
Abnormality of the inner ear  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of upper limb joint  (IAGP)
Amblyopia  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Ataxia  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Brisk reflexes  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebellar hemisphere hypoplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chronic pain  (IAGP)
Cognitive impairment  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Congenital stationary night blindness  (IAGP)
Delayed speech and language development  (IAGP)
Depression  (IAGP)
Dislocated radial head  (IAGP)
Distal arthrogryposis  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Glaucoma  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hemianopia  (IAGP)
High palate  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Intellectual disability  (IAGP)
Iris hypopigmentation  (IAGP)
Keratoconus  (IAGP)
Macular dystrophy  (IAGP)
Melanoma  (IAGP)
Microdontia  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Myopia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Parathyroid carcinoma  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Pigmentary retinopathy  (IAGP)
Posterior subcapsular cataract  (IAGP)
Progressive night blindness  (IAGP)
Prostate cancer  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Scotoma  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Subcortical cerebral atrophy  (IAGP)
Type II diabetes mellitus  (IAGP)
Undetectable electroretinogram  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Auslender N, etal., Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107.
2. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Baux D, etal., Hum Mutat. 2007 Aug;28(8):781-9.
3. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
4. An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. Ebermann I, etal., Eur J Hum Genet. 2009 Jan;17(1):80-4. doi: 10.1038/ejhg.2008.143. Epub 2008 Jul 30.
5. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Eudy JD, etal., Science. 1998 Jun 12;280(5370):1753-7.
6. Polymorphism in the 5'-end of the aldose reductase gene is strongly associated with the development of diabetic nephropathy in type I diabetes. Heesom AE, etal., Diabetes. 1997 Feb;46(2):287-91.
7. Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease. Huang D, etal., Genomics 2002 Aug;80(2):195-203.
8. Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. Liu X, etal., Mol Vis. 2010 Mar 17;16:454-61.
9. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Liu X, etal., Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8. Epub 2007 Mar 5.
10. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. McGee TL, etal., J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.
11. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Najera C, etal., Hum Mutat. 2002 Jul;20(1):76-7.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Mutational spectrum in Usher syndrome type II. Ouyang XM, etal., Clin Genet. 2004 Apr;65(4):288-93.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Rivolta C, etal., Am J Hum Genet. 2000 Jun;66(6):1975-8. Epub 2000 Apr 20.
18. Review series: The cell biology of hearing. Schwander M, etal., J Cell Biol. 2010 Jul 12;190(1):9-20. doi: 10.1083/jcb.201001138.
19. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Vache C, etal., Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16.
20. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Weston MD, etal., Am J Hum Genet. 2000 Apr;66(4):1199-210. Epub 2000 Mar 22.
21. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Yang T, etal., Orphanet J Rare Dis. 2013 Jun 14;8:85. doi: 10.1186/1750-1172-8-85.
Additional References at PubMed
PMID:276901   PMID:10090909   PMID:10738000   PMID:10909849   PMID:11311042   PMID:11402400   PMID:11788194   PMID:12427073   PMID:12433396   PMID:12525556   PMID:12786748   PMID:14676276  
PMID:14970843   PMID:15015129   PMID:15241801   PMID:15325563   PMID:15671307   PMID:15823922   PMID:16098008   PMID:16114888   PMID:16301216   PMID:16301217   PMID:16434480   PMID:16545802  
PMID:16710414   PMID:16767206   PMID:17081983   PMID:17085681   PMID:17296898   PMID:18273898   PMID:18463160   PMID:18484607   PMID:18519826   PMID:18641288   PMID:19023448   PMID:19129697  
PMID:19683999   PMID:19737284   PMID:19881469   PMID:19913121   PMID:20145675   PMID:20301515   PMID:20301590   PMID:20379614   PMID:20440071   PMID:20591486   PMID:20628086   PMID:20801516  
PMID:21593743   PMID:21686329   PMID:21873635   PMID:22004887   PMID:22119785   PMID:22147658   PMID:22159486   PMID:22563300   PMID:22876132   PMID:22990118   PMID:23284306   PMID:23382691  
PMID:23737954   PMID:23924366   PMID:23940504   PMID:24227914   PMID:24349473   PMID:24607488   PMID:24618850   PMID:25078356   PMID:25133613   PMID:25234806   PMID:25352746   PMID:25375654  
PMID:25406310   PMID:25521520   PMID:25558175   PMID:25649381   PMID:25804404   PMID:25823529   PMID:26037342   PMID:26252086   PMID:26310143   PMID:26377068   PMID:26629787   PMID:26806561  
PMID:26927203   PMID:27318125   PMID:27828912   PMID:28031293   PMID:28118666   PMID:28137943   PMID:28653555   PMID:28678594   PMID:28761320   PMID:28894305   PMID:29142287   PMID:29151245  
PMID:29283788   PMID:29490346   PMID:29655801   PMID:29899460   PMID:29953849   PMID:30190494   PMID:30280194   PMID:30948794   PMID:31266775   PMID:31817543   PMID:31904091   PMID:31998945  
PMID:32093671   PMID:32176120   PMID:32188678   PMID:32313182   PMID:32319668   PMID:32446738   PMID:32675063   PMID:32893482   PMID:32945453   PMID:33105608   PMID:33124170   PMID:33288907  
PMID:33302902   PMID:33926394   PMID:34203967   PMID:34331386   PMID:34537242   PMID:34638692   PMID:34948090   PMID:35293952   PMID:35345973   PMID:35452909   PMID:35870892   PMID:36314366  
PMID:36362125   PMID:36597993   PMID:36751700   PMID:36785559   PMID:36856324   PMID:36948373   PMID:36980924   PMID:37287646   PMID:37654703   PMID:37700068   PMID:38016437  


Genomics

Comparative Map Data
USH2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381215,622,891 - 216,423,448 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1215,622,891 - 216,423,448 (-)EnsemblGRCh38hg38GRCh38
GRCh371215,796,233 - 216,596,790 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361213,862,859 - 214,663,361 (-)NCBINCBI36Build 36hg18NCBI36
Build 341212,735,682 - 212,985,133NCBI
Celera1189,020,056 - 189,820,422 (-)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1186,470,498 - 187,272,188 (-)NCBIHuRef
CHM1_11217,068,567 - 217,869,890 (-)NCBICHM1_1
T2T-CHM13v2.01214,863,291 - 215,663,779 (-)NCBIT2T-CHM13v2.0
Ush2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391187,995,035 - 188,697,694 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1187,994,220 - 188,697,238 (+)EnsemblGRCm39 Ensembl
GRCm381188,262,838 - 188,965,497 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1188,262,023 - 188,965,041 (+)EnsemblGRCm38mm10GRCm38
MGSCv371190,086,717 - 190,788,920 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361189,963,822 - 190,665,716 (+)NCBIMGSCv36mm8
Celera1195,189,439 - 195,876,703 (+)NCBICelera
Cytogenetic Map1H6NCBI
cM Map192.29NCBI
Ush2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr813102,368,783 - 103,035,230 (+)NCBIGRCr8
mRatBN7.21399,837,445 - 100,503,935 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1399,837,445 - 100,503,922 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx13102,352,932 - 103,019,370 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.013103,742,004 - 104,408,169 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.013100,938,790 - 101,610,718 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.013106,750,738 - 107,434,195 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13106,751,625 - 107,427,329 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013111,395,505 - 112,057,548 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.413104,481,807 - 104,606,485 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.113104,670,849 - 104,795,529 (+)NCBI
Celera1399,331,812 - 99,994,577 (+)NCBICelera
Cytogenetic Map13q26NCBI
Ush2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554061,838,885 - 2,496,980 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554061,837,831 - 2,499,664 (+)NCBIChiLan1.0ChiLan1.0
USH2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2132,981,404 - 33,782,083 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1132,939,322 - 33,739,723 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01191,193,130 - 191,994,664 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11196,048,086 - 196,850,216 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1196,048,086 - 196,850,216 (-)Ensemblpanpan1.1panPan2
USH2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13811,063,221 - 11,750,444 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3811,063,817 - 11,750,444 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3811,100,934 - 11,787,913 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03811,089,431 - 11,776,697 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3811,089,576 - 11,776,697 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13811,101,486 - 11,789,687 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03811,453,699 - 12,141,739 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03811,739,438 - 12,442,329 (-)NCBIUU_Cfam_GSD_1.0
Ush2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934460,113,945 - 60,848,953 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366282,123,957 - 2,858,872 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366282,123,917 - 2,859,958 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USH2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1105,825,591 - 6,662,733 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2107,790,789 - 8,411,655 (-)NCBISscrofa10.2Sscrofa10.2susScr3
USH2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12513,171,499 - 13,950,553 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2513,173,576 - 13,947,724 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605513,613,553 - 14,394,397 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ush2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462483549,877 - 758,640 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462483548,213 - 758,640 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USH2A
6057 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_206933.4(USH2A):c.10182+21C>T single nucleotide variant not provided [RCV001581958] Chr1:215790038 [GRCh38]
Chr1:215963380 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003453536]|Short stature [RCV000735363]|Usher syndrome type 2A [RCV003453535]|not provided [RCV001869007] Chr1:216084862 [GRCh38]
Chr1:216258204 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.736A>G (p.Ile246Val) single nucleotide variant Retinal dystrophy [RCV001073710]|Retinitis pigmentosa 39 [RCV003449492]|Usher syndrome type 2A [RCV001829504]|not provided [RCV000522123] Chr1:216365001 [GRCh38]
Chr1:216538343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7595-2144A>G single nucleotide variant Retinal dystrophy [RCV001074209]|Retinitis pigmentosa 39 [RCV001376510]|Retinitis pigmentosa [RCV000787740]|USH2A-Related Disorders [RCV001824575]|Usher syndrome [RCV000505092]|Usher syndrome type 2 [RCV001003267]|Usher syndrome type 2A [RCV000023700]|Usher syndrome type 2A [RCV000664608]|not provided [RCV000814767] Chr1:215891198 [GRCh38]
Chr1:216064540 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|not provided
NM_206933.4(USH2A):c.3129dup (p.Val1044fs) duplication Usher syndrome type 2A [RCV000023701] Chr1:216217414..216217415 [GRCh38]
Chr1:216390756..216390757 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8890dup (p.Trp2964fs) duplication Usher syndrome type 2A [RCV000023702]|not provided [RCV002513202] Chr1:215845988..215845989 [GRCh38]
Chr1:216019330..216019331 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) deletion Retinitis pigmentosa [RCV000032524]|Retinitis pigmentosa-deafness syndrome [RCV000041812]|Usher syndrome, type 2A [RCV000041812] Chr1:216247095 [GRCh38]
Chr1:216420437 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2299del (p.Glu767fs) deletion Cone-rod dystrophy [RCV000787897]|Congenital stationary night blindness [RCV000787899]|Inborn genetic diseases [RCV000623326]|Macular dystrophy [RCV000787895]|Retinal dystrophy [RCV000210326]|Retinitis pigmentosa 39 [RCV000191141]|Retinitis pigmentosa [RCV000032524]|Short stature [RCV000735362]|USH2A-Related Disorders [RCV001095692]|USH2A-related condition [RCV003398418]|Usher syndrome [RCV000504641]|Usher syndrome [RCV000824793]|Usher syndrome type 2A [RCV000002445]|Usher syndrome type 2A [RCV002504737]|not provided [RCV000254870]|not specified [RCV001000453] Chr1:216247095 [GRCh38]
Chr1:216420437 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.2898del (p.Thr967fs) deletion Rare genetic deafness [RCV000824792]|Retinitis pigmentosa 39 [RCV003450613]|Usher syndrome type 2A [RCV000002446]|Usher syndrome type 2A [RCV000671576]|not provided [RCV001851582] Chr1:216232048 [GRCh38]
Chr1:216405390 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) microsatellite Retinal dystrophy [RCV001073308]|Retinitis pigmentosa 39 [RCV000984013]|USH2A-Related Disorders [RCV000310917]|Usher syndrome [RCV000710335]|Usher syndrome type 2A [RCV000002447]|Usher syndrome type 2A [RCV002482816]|not provided [RCV000793722] Chr1:216190280..216190281 [GRCh38]
Chr1:216363622..216363623 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.779T>G (p.Leu260Ter) single nucleotide variant Usher syndrome type 2A [RCV000002448] Chr1:216364958 [GRCh38]
Chr1:216538300 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) single nucleotide variant Rare genetic deafness [RCV000824798]|Retinal dystrophy [RCV001074393]|Retinitis pigmentosa 39 [RCV003460406]|Usher syndrome [RCV001004780]|Usher syndrome type 2A [RCV000002449]|not provided [RCV000303941] Chr1:216325492 [GRCh38]
Chr1:216498834 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257905]|Ear malformation [RCV001813938]|Inborn genetic diseases [RCV000623925]|Retinal dystrophy [RCV000504814]|Retinitis pigmentosa 39 [RCV000002450]|Retinitis pigmentosa [RCV000032523]|See cases [RCV002251859]|USH2A-Related Disorders [RCV000404009]|USH2A-related condition [RCV003398419]|Usher syndrome [RCV000505146]|Usher syndrome type 2A [RCV000174625]|Usher syndrome type 2A [RCV001535506]|not provided [RCV000239000] Chr1:216247118 [GRCh38]
Chr1:216420460 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) single nucleotide variant Congenital sensorineural hearing impairment [RCV000415089]|Hearing impairment [RCV000414867]|Retinal dystrophy [RCV001074873]|Retinitis pigmentosa 39 [RCV000412373]|Retinitis pigmentosa [RCV000504922]|Rod-cone dystrophy [RCV001806999]|USH2A-Related Disorders [RCV001813732]|Usher syndrome [RCV000824781]|Usher syndrome [RCV003114173]|Usher syndrome type 2 [RCV001003260]|Usher syndrome type 2A [RCV000002451]|Usher syndrome type 2A [RCV002476913]|Usher syndrome type 3A [RCV003314546]|not provided [RCV000414231] Chr1:215728232 [GRCh38]
Chr1:215901574 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.949C>A (p.Arg317=) single nucleotide variant Blindness [RCV000627017]|Rare genetic deafness [RCV000824799]|Retinal dystrophy [RCV001075725]|Retinitis pigmentosa 39 [RCV000984234]|Usher syndrome type 2 [RCV001199595]|Usher syndrome type 2A [RCV000002452]|Usher syndrome type 2A [RCV000763297]|not provided [RCV000412796] Chr1:216325499 [GRCh38]
Chr1:216498841 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) single nucleotide variant Rare genetic deafness [RCV000824795]|Retinal dystrophy [RCV001074823]|Retinitis pigmentosa 39 [RCV000984315]|USH2A-Related Disorders [RCV000778222]|Usher syndrome [RCV000504809]|Usher syndrome type 2A [RCV000002453]|Usher syndrome type 2A [RCV002482817]|not provided [RCV000224697] Chr1:216324240 [GRCh38]
Chr1:216497582 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.240_241insGATC (p.Gln81fs) insertion Retinitis pigmentosa 39 [RCV000002455]|Usher syndrome type 2A [RCV000002454] Chr1:216422096..216422097 [GRCh38]
Chr1:216595438..216595439 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) single nucleotide variant Rare genetic deafness [RCV000824794]|Retinitis pigmentosa 39 [RCV000002457]|Usher syndrome type 2 [RCV001003279]|Usher syndrome type 2A [RCV000002456]|not provided [RCV000725261] Chr1:216247185 [GRCh38]
Chr1:216420527 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV000002458]|Retinitis pigmentosa [RCV000032522]|not provided [RCV001379272] Chr1:215671085 [GRCh38]
Chr1:215844427 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser) single nucleotide variant not provided [RCV000728057] Chr1:215674713 [GRCh38]
Chr1:215848055 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.15267_15275delinsC (p.Leu5089fs) indel not provided [RCV000627538] Chr1:215634481..215634489 [GRCh38]
Chr1:215807823..215807831 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7595-2389C>T single nucleotide variant not provided [RCV001571367] Chr1:215891443 [GRCh38]
Chr1:216064785 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11189A>G (p.Glu3730Gly) single nucleotide variant Usher syndrome type 2A [RCV002280784]|not provided [RCV000728054] Chr1:215759702 [GRCh38]
Chr1:215933044 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3169C>G (p.Gln1057Glu) single nucleotide variant not provided [RCV000728073] Chr1:216207420 [GRCh38]
Chr1:216380762 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4397-94A>G single nucleotide variant not provided [RCV001545258] Chr1:216175576 [GRCh38]
Chr1:216348918 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003461003]|Retinitis pigmentosa [RCV001199797]|not provided [RCV000729471] Chr1:216086763 [GRCh38]
Chr1:216260105 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4902_4908delinsTC (p.Asn1635fs) indel Retinal dystrophy [RCV001074075]|Retinitis pigmentosa 39 [RCV003453521]|not provided [RCV000729475] Chr1:216086798..216086804 [GRCh38]
Chr1:216260140..216260146 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10928A>G (p.His3643Arg) single nucleotide variant not provided [RCV000728323] Chr1:215779854 [GRCh38]
Chr1:215953196 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=) single nucleotide variant not provided [RCV000729011] Chr1:215782826 [GRCh38]
Chr1:215956168 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly) single nucleotide variant Usher syndrome type 2A [RCV000986524]|not provided [RCV000132699] Chr1:215786811 [GRCh38]
Chr1:215960153 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) single nucleotide variant Retinitis pigmentosa [RCV000132700] Chr1:215782779 [GRCh38]
Chr1:215956121 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) single nucleotide variant Retinal dystrophy [RCV001074730]|Retinitis pigmentosa 39 [RCV000678643]|Retinitis pigmentosa [RCV000504711]|Usher syndrome [RCV003226212]|Usher syndrome type 2A [RCV000132701]|Usher syndrome type 2A [RCV000665160]|not provided [RCV000413588] Chr1:215759735 [GRCh38]
Chr1:215933077 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12079C>T (p.Gln4027Ter) single nucleotide variant Usher syndrome type 2A [RCV000132702] Chr1:215680364 [GRCh38]
Chr1:215853706 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) single nucleotide variant Rare genetic deafness [RCV000824779]|Retinal dystrophy [RCV001073283]|Retinitis pigmentosa 39 [RCV000983996]|Retinitis pigmentosa [RCV003324517]|Usher syndrome type 2A [RCV000132703]|not provided [RCV001043740] Chr1:215674901 [GRCh38]
Chr1:215848243 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp) single nucleotide variant Retinal dystrophy [RCV001073355]|Retinitis pigmentosa [RCV000132704] Chr1:215674445 [GRCh38]
Chr1:215847787 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) single nucleotide variant Retinal dystrophy [RCV001075191]|Retinitis pigmentosa 39 [RCV003453100]|Retinitis pigmentosa [RCV000132705]|not provided [RCV002514759] Chr1:215671258 [GRCh38]
Chr1:215844600 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) single nucleotide variant Leber congenital amaurosis [RCV000144482]|Retinitis pigmentosa 39 [RCV003462051]|Retinitis pigmentosa [RCV000132706]|Usher syndrome type 2A [RCV000675147]|not provided [RCV002514760] Chr1:215650692 [GRCh38]
Chr1:215824034 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu) single nucleotide variant Retinitis pigmentosa [RCV000132707] Chr1:215648660 [GRCh38]
Chr1:215822002 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003462052]|Retinitis pigmentosa [RCV000132708]|Usher syndrome type 2A [RCV000490337]|not provided [RCV001221094] Chr1:215634523 [GRCh38]
Chr1:215807865 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1722_1723insGA (p.Cys575fs) insertion Retinitis pigmentosa [RCV000132709] Chr1:216292292..216292293 [GRCh38]
Chr1:216465634..216465635 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) single nucleotide variant Retinal dystrophy [RCV001074347]|Retinitis pigmentosa 39 [RCV000576637]|Retinitis pigmentosa [RCV000132710]|Usher syndrome [RCV002469023]|Usher syndrome type 2 [RCV001003277]|Usher syndrome type 2A [RCV000986542]|not provided [RCV000595137] Chr1:216246592 [GRCh38]
Chr1:216419934 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2983C>T (p.Gln995Ter) single nucleotide variant Usher syndrome type 2A [RCV000132711] Chr1:216231963 [GRCh38]
Chr1:216405305 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3967del (p.Thr1322_Met1323insTer) deletion Usher syndrome type 2A [RCV000132712] Chr1:216198429 [GRCh38]
Chr1:216371771 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) single nucleotide variant Retinal dystrophy [RCV001075672]|Retinitis pigmentosa 39 [RCV003453101]|Retinitis pigmentosa [RCV000132713]|not provided [RCV001227152] Chr1:216418675 [GRCh38]
Chr1:216592017 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003462053]|Retinitis pigmentosa [RCV000132714] Chr1:216000489 [GRCh38]
Chr1:216173831 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.2(USH2A):c.8682delG deletion Retinitis pigmentosa [RCV000132716] Chr1:215867170 [GRCh38]
Chr1:216040512 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg) single nucleotide variant Retinitis pigmentosa [RCV000132717]|not provided [RCV003237744] Chr1:215799114 [GRCh38]
Chr1:215972456 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15162G>A (p.Leu5054=) single nucleotide variant not provided [RCV001495037] Chr1:215634594 [GRCh38]
Chr1:215807936 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15052+8A>G single nucleotide variant not provided [RCV002529051]|not specified [RCV000579038] Chr1:215639147 [GRCh38]
Chr1:215812489 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.2(USH2A):c.12294+261C>A single nucleotide variant Lung cancer [RCV000090458] Chr1:215679888 [GRCh38]
Chr1:215853230 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.12067-21184A>G single nucleotide variant Lung cancer [RCV000090459] Chr1:215701560 [GRCh38]
Chr1:215874902 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.11389+3723G>T single nucleotide variant Lung cancer [RCV000090460] Chr1:215754872 [GRCh38]
Chr1:215928214 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.9101C>A (p.Thr3034Lys) single nucleotide variant Lung cancer [RCV000090461] Chr1:215844451 [GRCh38]
Chr1:216017793 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.8845+8667A>T single nucleotide variant Lung cancer [RCV000090462] Chr1:215858340 [GRCh38]
Chr1:216031682 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6806-9473C>A single nucleotide variant Usher syndrome type 2A [RCV000669573] Chr1:215980249 [GRCh38]
Chr1:216153591 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.2(USH2A):c.6805+5421T>C single nucleotide variant Lung cancer [RCV000090464] Chr1:215987599 [GRCh38]
Chr1:216160941 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.6805+1923G>C single nucleotide variant Lung cancer [RCV000090465] Chr1:215991097 [GRCh38]
Chr1:216164439 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6325+7390C>T single nucleotide variant Usher syndrome type 2A [RCV000666148] Chr1:216039041 [GRCh38]
Chr1:216212383 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.2(USH2A):c.4988-593T>A single nucleotide variant Lung cancer [RCV000090467] Chr1:216085470 [GRCh38]
Chr1:216258812 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.4628-15496T>C single nucleotide variant Lung cancer [RCV000090468] Chr1:216112709 [GRCh38]
Chr1:216286051 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.4627+37572A>T single nucleotide variant Lung cancer [RCV000090469] Chr1:216137680 [GRCh38]
Chr1:216311022 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.4396+2994G>C single nucleotide variant Lung cancer [RCV000090470] Chr1:216187229 [GRCh38]
Chr1:216360571 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.4251+2173A>G single nucleotide variant Lung cancer [RCV000090471] Chr1:216194380 [GRCh38]
Chr1:216367722 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.4082-50A>T single nucleotide variant Lung cancer [RCV000090472] Chr1:216196772 [GRCh38]
Chr1:216370114 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.3158-4090C>T single nucleotide variant Lung cancer [RCV000090473] Chr1:216211521 [GRCh38]
Chr1:216384863 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.1972-5637C>A single nucleotide variant Lung cancer [RCV000090474] Chr1:216256735 [GRCh38]
Chr1:216430077 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.784+12591C>G single nucleotide variant Lung cancer [RCV000090475] Chr1:216352362 [GRCh38]
Chr1:216525704 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) deletion Retinitis pigmentosa 39 [RCV001376445]|Usher syndrome type 2A [RCV001196594]|not provided [RCV001268166] Chr1:215674564..215674569 [GRCh38]
Chr1:215847906..215847911 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
NM_206933.2(USH2A):c.4338_4339delCT (p.Cys1447Glnfs) deletion Retinitis pigmentosa-deafness syndrome [RCV000041840]|Usher syndrome, type 2A [RCV000041840]|Usher syndrome, type 2A [RCV000152616] Chr1:216190280..216190281 [GRCh38]
Chr1:216363622..216363623 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450843]|Retinitis pigmentosa [RCV001098722]|Usher syndrome type 2A [RCV001098723]|not provided [RCV001514244]|not specified [RCV000041841] Chr1:216190248 [GRCh38]
Chr1:216363590 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450844]|Retinitis pigmentosa [RCV000320740]|Usher syndrome type 2A [RCV000375250]|not provided [RCV000969150]|not specified [RCV000041842] Chr1:216175439 [GRCh38]
Chr1:216348781 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.4532C>T (p.Ala1511Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003450846]|Usher syndrome type 2A [RCV003450845]|not provided [RCV001033957]|not specified [RCV000041843] Chr1:216175347 [GRCh38]
Chr1:216348689 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) single nucleotide variant Retinitis pigmentosa [RCV001102384]|Usher syndrome type 2A [RCV001102385]|not provided [RCV000724966]|not specified [RCV000041844] Chr1:216175319 [GRCh38]
Chr1:216348661 [GRCh37]
Chr1:1q41
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) single nucleotide variant Usher syndrome type 2A [RCV001273055]|not provided [RCV000725828]|not specified [RCV000041845] Chr1:216175301 [GRCh38]
Chr1:216348643 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) single nucleotide variant Retinal dystrophy [RCV001073300]|Retinitis pigmentosa [RCV000270447]|Usher syndrome type 2A [RCV000324312]|not provided [RCV000513149]|not specified [RCV000041846] Chr1:216175293 [GRCh38]
Chr1:216348635 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) single nucleotide variant Inborn genetic diseases [RCV000624538]|Retinitis pigmentosa [RCV000504950]|Usher syndrome [RCV001261016]|not provided [RCV000087011]|not specified [RCV000041847] Chr1:216097127 [GRCh38]
Chr1:216270469 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) single nucleotide variant Retinitis pigmentosa [RCV001099313]|Usher syndrome type 2A [RCV001099314]|not provided [RCV000881175]|not specified [RCV000041848] Chr1:216421859 [GRCh38]
Chr1:216595201 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val) single nucleotide variant Usher syndrome type 2A [RCV000673507]|not provided [RCV002514162]|not specified [RCV000041849] Chr1:216089061 [GRCh38]
Chr1:216262403 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.4983T>C (p.Asp1661=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450848]|Usher syndrome type 2A [RCV000669761]|Usher syndrome type 2A [RCV003450847]|not provided [RCV001447529]|not specified [RCV000041850] Chr1:216086723 [GRCh38]
Chr1:216260065 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr) single nucleotide variant Usher syndrome type 2A [RCV001276254]|not provided [RCV001513476]|not specified [RCV000041851] Chr1:216084871 [GRCh38]
Chr1:216258213 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) single nucleotide variant Usher syndrome type 2A [RCV001276252]|not provided [RCV001514234]|not specified [RCV000041853] Chr1:216084852 [GRCh38]
Chr1:216258194 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.504A>G (p.Thr168=) single nucleotide variant Retinitis pigmentosa [RCV000332187]|Usher syndrome type 2A [RCV000260536]|not provided [RCV001513477]|not specified [RCV000041854] Chr1:216418661 [GRCh38]
Chr1:216592003 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450849]|Usher syndrome type 2A [RCV001826594]|not provided [RCV000961110]|not specified [RCV000041855] Chr1:216084723 [GRCh38]
Chr1:216258065 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.5167+4A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003445122]|Retinitis pigmentosa [RCV000787734]|Usher syndrome type 2A [RCV001831704]|not provided [RCV001343509]|not specified [RCV000041856] Chr1:216084694 [GRCh38]
Chr1:216258036 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5367A>G (p.Leu1789=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450851]|Usher syndrome type 2A [RCV003450850]|not provided [RCV000929837]|not specified [RCV000041857] Chr1:216078294 [GRCh38]
Chr1:216251636 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450852]|Usher syndrome type 2A [RCV001276248]|not provided [RCV000879979]|not specified [RCV000041858] Chr1:216078252 [GRCh38]
Chr1:216251594 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450853]|Usher syndrome type 2A [RCV001826595]|not provided [RCV000972669]|not specified [RCV000041859] Chr1:216078144 [GRCh38]
Chr1:216251486 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.5572+15G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003445124]|Usher syndrome type 2A [RCV002496666]|Usher syndrome type 2A [RCV003445123]|not provided [RCV001509713]|not specified [RCV000041860] Chr1:216078074 [GRCh38]
Chr1:216251416 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) single nucleotide variant Rare genetic deafness [RCV000041861]|Retinal dystrophy [RCV001074044]|Retinitis pigmentosa 39 [RCV003460552]|USH2A-related condition [RCV003415781]|Usher syndrome [RCV000710326]|Usher syndrome type 2A [RCV000667951]|not provided [RCV001214945] Chr1:216073292 [GRCh38]
Chr1:216246634 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003450854]|Usher syndrome type 2A [RCV000670596]|Usher syndrome type 2A [RCV000986534]|not provided [RCV001512374]|not specified [RCV000041862] Chr1:216073264 [GRCh38]
Chr1:216246606 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) single nucleotide variant Childhood onset hearing loss [RCV001543605]|Retinitis pigmentosa 39 [RCV001588861]|Usher syndrome type 2A [RCV001276245]|not provided [RCV000585075]|not specified [RCV000041863] Chr1:216073261 [GRCh38]
Chr1:216246603 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) single nucleotide variant Usher syndrome type 2A [RCV001810413]|not provided [RCV000903235]|not specified [RCV000041864] Chr1:216073175 [GRCh38]
Chr1:216246517 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5739G>A (p.Glu1913=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450856]|Usher syndrome type 2A [RCV003450855]|not provided [RCV000940543]|not specified [RCV000041865] Chr1:216073134 [GRCh38]
Chr1:216246476 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.573A>G (p.Val191=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450857]|Retinitis pigmentosa [RCV001097448]|Usher syndrome type 2A [RCV001097447]|not provided [RCV000953435]|not specified [RCV000041866] Chr1:216418592 [GRCh38]
Chr1:216591934 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5776+7T>G single nucleotide variant Retinitis pigmentosa 39 [RCV003445126]|Usher syndrome type 2A [RCV003445125]|not provided [RCV000982275]|not specified [RCV000041867] Chr1:216073090 [GRCh38]
Chr1:216246432 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5783T>C (p.Leu1928Pro) single nucleotide variant not specified [RCV000041868] Chr1:216072963 [GRCh38]
Chr1:216246305 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) single nucleotide variant Rare genetic deafness [RCV000041869]|Retinitis pigmentosa 39 [RCV003450859]|Usher syndrome type 2A [RCV000668739]|Usher syndrome type 2A [RCV003450858]|not provided [RCV001289411] Chr1:216072958 [GRCh38]
Chr1:216246300 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5857+2T>C single nucleotide variant Rare genetic deafness [RCV000041870]|Retinal dystrophy [RCV001074605]|Retinitis pigmentosa 39 [RCV000675153]|USH2A-Related Disorders [RCV000295857]|Usher syndrome [RCV001004785]|Usher syndrome type 2A [RCV002291270]|not provided [RCV001036145] Chr1:216072887 [GRCh38]
Chr1:216246229 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5858-1G>A single nucleotide variant Rare genetic deafness [RCV000041871]|Retinitis pigmentosa 39 [RCV003445127]|Usher syndrome type 2A [RCV000665613]|Usher syndrome type 2A [RCV001826596]|not provided [RCV000821430] Chr1:216070293 [GRCh38]
Chr1:216243635 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) single nucleotide variant Retinal dystrophy [RCV000504937]|Retinitis pigmentosa 39 [RCV001579152]|Usher syndrome type 2A [RCV000765069]|Usher syndrome type 2A [RCV001196428]|not provided [RCV000726918]|not specified [RCV000041872] Chr1:216070292 [GRCh38]
Chr1:216243634 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) single nucleotide variant Progressive cone dystrophy (without rod involvement) [RCV000787924]|Usher syndrome type 2A [RCV000669397]|Usher syndrome type 2A [RCV001273044]|not provided [RCV000585540]|not specified [RCV000041873] Chr1:216070175 [GRCh38]
Chr1:216243517 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) single nucleotide variant Retinitis pigmentosa 39 [RCV003450861]|Usher syndrome type 2A [RCV003450860]|not provided [RCV000756881]|not specified [RCV000041874] Chr1:216070157 [GRCh38]
Chr1:216243499 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6041A>C (p.Asn2014Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450863]|Usher syndrome type 2A [RCV003450862]|not provided [RCV000756880]|not specified [RCV000041875] Chr1:216070109 [GRCh38]
Chr1:216243451 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe) single nucleotide variant Usher syndrome type 2A [RCV000665501]|Usher syndrome type 2A [RCV001509571]|not provided [RCV002513603]|not specified [RCV000041876] Chr1:216070107 [GRCh38]
Chr1:216243449 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003450864]|Usher syndrome type 2A [RCV001831705]|not provided [RCV001852860]|not specified [RCV000041877] Chr1:216048647 [GRCh38]
Chr1:216221989 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6077A>G (p.Lys2026Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450866]|Usher syndrome type 2A [RCV003450865]|not provided [RCV000970808]|not specified [RCV000041878] Chr1:216048620 [GRCh38]
Chr1:216221962 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) single nucleotide variant Usher syndrome type 2A [RCV000664994]|Usher syndrome type 2A [RCV001273040]|not provided [RCV000726921]|not specified [RCV000041879] Chr1:216048563 [GRCh38]
Chr1:216221905 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) single nucleotide variant Rare genetic deafness [RCV000041880]|Retinal dystrophy [RCV001073793]|Retinitis pigmentosa 39 [RCV003450867]|Usher syndrome type 2A [RCV001826597]|not provided [RCV001042426] Chr1:216046532 [GRCh38]
Chr1:216219874 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003450868]|Retinitis pigmentosa [RCV000504996]|Usher syndrome type 2A [RCV000986532]|not provided [RCV000755431]|not specified [RCV000041881] Chr1:216046516 [GRCh38]
Chr1:216219858 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450869]|Usher syndrome type 2A [RCV001276243]|not provided [RCV000885858]|not specified [RCV000041882] Chr1:216046486 [GRCh38]
Chr1:216219828 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.627G>A (p.Lys209=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450871]|Usher syndrome type 2A [RCV003450870]|not provided [RCV002054839]|not specified [RCV000041883] Chr1:216418538 [GRCh38]
Chr1:216591880 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6289_6302del (p.Leu2096_Ile2097insTer) deletion Rare genetic deafness [RCV000041884]|Retinitis pigmentosa 39 [RCV003450873]|Usher syndrome type 2A [RCV000673453]|Usher syndrome type 2A [RCV003450872]|not provided [RCV001213783] Chr1:216046454..216046467 [GRCh38]
Chr1:216219796..216219809 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) single nucleotide variant Retinal dystrophy [RCV001073913]|not provided [RCV001238986]|not specified [RCV000041885] Chr1:216000541 [GRCh38]
Chr1:216173883 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450875]|Usher syndrome type 2A [RCV003450874]|not provided [RCV000755430]|not specified [RCV000041886] Chr1:216000519 [GRCh38]
Chr1:216173861 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) single nucleotide variant Usher syndrome type 2A [RCV000664951]|not provided [RCV002513604]|not specified [RCV000041887] Chr1:215999058 [GRCh38]
Chr1:216172400 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) single nucleotide variant Usher syndrome type 2A [RCV000986530]|not provided [RCV001515000]|not specified [RCV000041888] Chr1:215999038 [GRCh38]
Chr1:216172380 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450876]|Usher syndrome type 2A [RCV001826598]|not provided [RCV000923504]|not specified [RCV000041889] Chr1:215999034 [GRCh38]
Chr1:216172376 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) single nucleotide variant Rare genetic deafness [RCV000041890]|Retinal dystrophy [RCV001075204]|Retinitis pigmentosa 39 [RCV000675152]|Retinitis pigmentosa [RCV000504825]|Usher syndrome type 2A [RCV001826599]|not provided [RCV000408647] Chr1:216365084 [GRCh38]
Chr1:216538426 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450877]|Usher syndrome type 2A [RCV001274252]|not provided [RCV000756879]|not specified [RCV000041891] Chr1:215998957 [GRCh38]
Chr1:216172299 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450878]|Usher syndrome type 2A [RCV001826600]|not provided [RCV000923089]|not specified [RCV000041892] Chr1:215993142 [GRCh38]
Chr1:216166484 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) single nucleotide variant not provided [RCV000729028]|not specified [RCV000041893] Chr1:215993114 [GRCh38]
Chr1:216166456 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) single nucleotide variant Usher syndrome type 2A [RCV001274251]|Usher syndrome type 2A [RCV002504927]|not provided [RCV000087012]|not specified [RCV000041894] Chr1:215993112 [GRCh38]
Chr1:216166454 [GRCh37]
Chr1:1q41
benign|likely benign|not provided
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) single nucleotide variant Usher syndrome type 2A [RCV001274250]|not provided [RCV001210033]|not specified [RCV000041895] Chr1:215993104 [GRCh38]
Chr1:216166446 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450879]|Usher syndrome type 2A [RCV000665990]|Usher syndrome type 2A [RCV001274248]|not provided [RCV001243733]|not specified [RCV000041896] Chr1:215993025 [GRCh38]
Chr1:216166367 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) single nucleotide variant Retinitis pigmentosa 39 [RCV003450880]|Usher syndrome type 2A [RCV001274246]|not provided [RCV000087013]|not specified [RCV000041897] Chr1:215970707 [GRCh38]
Chr1:216144049 [GRCh37]
Chr1:1q41
benign|not provided
NM_206933.4(USH2A):c.688G>A (p.Val230Met) single nucleotide variant Retinitis pigmentosa [RCV001097446]|Usher syndrome type 2A [RCV001273813]|not provided [RCV000126255]|not specified [RCV000041898] Chr1:216365049 [GRCh38]
Chr1:216538391 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_206933.4(USH2A):c.6958-5C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003445129]|Usher syndrome type 2A [RCV003445128]|not provided [RCV000931400]|not specified [RCV000041899] Chr1:215965484 [GRCh38]
Chr1:216138826 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.6969A>C (p.Arg2323=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450882]|Usher syndrome type 2A [RCV000670792]|Usher syndrome type 2A [RCV003450881]|not provided [RCV001405198]|not specified [RCV000041900] Chr1:215965468 [GRCh38]
Chr1:216138810 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) single nucleotide variant Usher syndrome type 2A [RCV001271990]|not provided [RCV000893876]|not specified [RCV000041901] Chr1:215965377 [GRCh38]
Chr1:216138719 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) single nucleotide variant Usher syndrome type 2A [RCV000490376]|Usher syndrome type 2A [RCV000671627]|not provided [RCV000924303]|not specified [RCV000041902] Chr1:215965369 [GRCh38]
Chr1:216138711 [GRCh37]
Chr1:1q41
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003450883]|Usher syndrome type 2A [RCV000665008]|Usher syndrome type 2A [RCV001271989]|not provided [RCV000512740]|not specified [RCV000041903] Chr1:215934786 [GRCh38]
Chr1:216108128 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450884]|Usher syndrome type 2A [RCV001274244]|not provided [RCV000972668]|not specified [RCV000041904] Chr1:215934756 [GRCh38]
Chr1:216108098 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) single nucleotide variant Rare genetic deafness [RCV000041905]|Retinitis pigmentosa 39 [RCV003466893]|Usher syndrome type 2A [RCV003450885]|not provided [RCV001205092] Chr1:215934672 [GRCh38]
Chr1:216108014 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7301-6C>T single nucleotide variant Usher syndrome type 2A [RCV001271985]|not provided [RCV000724816]|not specified [RCV000041906] Chr1:215900911 [GRCh38]
Chr1:216074253 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) single nucleotide variant Bardet-Biedl syndrome [RCV003224127]|Retinitis pigmentosa [RCV000504969]|Usher syndrome [RCV001171531]|Usher syndrome type 2A [RCV000667058]|Usher syndrome type 2A [RCV001271984]|not provided [RCV000923961]|not specified [RCV000041907] Chr1:215900872 [GRCh38]
Chr1:216074214 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7451+3G>A single nucleotide variant Usher syndrome type 2A [RCV000667778]|Usher syndrome type 2A [RCV000986529]|not provided [RCV002513605]|not specified [RCV000041908] Chr1:215900752 [GRCh38]
Chr1:216074094 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003450887]|Usher syndrome type 2A [RCV000666378]|Usher syndrome type 2A [RCV003450886]|not specified [RCV000041909] Chr1:215900217 [GRCh38]
Chr1:216073559 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=) single nucleotide variant Usher syndrome type 2A [RCV001274240]|not provided [RCV001513893]|not specified [RCV000041910] Chr1:215900163 [GRCh38]
Chr1:216073505 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450889]|Usher syndrome type 2A [RCV003450888]|not provided [RCV000087014]|not specified [RCV000041911] Chr1:215900085 [GRCh38]
Chr1:216073427 [GRCh37]
Chr1:1q41
benign|not provided
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003450890]|Usher syndrome type 2A [RCV001196102]|Usher syndrome type 2A [RCV002477135]|not provided [RCV000723775]|not specified [RCV000041912] Chr1:215888970 [GRCh38]
Chr1:216062312 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg) single nucleotide variant Usher syndrome type 2A [RCV000668816]|not specified [RCV000041913] Chr1:215888805 [GRCh38]
Chr1:216062147 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003450892]|Usher syndrome type 2A [RCV000672278]|Usher syndrome type 2A [RCV003450891]|not provided [RCV002514163]|not specified [RCV000041914] Chr1:215888965 [GRCh38]
Chr1:216062307 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003450893]|Usher syndrome type 2A [RCV001271977]|not provided [RCV000953014]|not specified [RCV000041915] Chr1:215888964 [GRCh38]
Chr1:216062306 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.7719T>C (p.Arg2573=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450895]|Usher syndrome type 2A [RCV003450894]|not provided [RCV001444092]|not specified [RCV000041916] Chr1:215888930 [GRCh38]
Chr1:216062272 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.78T>C (p.Ala26=) single nucleotide variant Retinitis pigmentosa [RCV001101304]|Usher syndrome type 2A [RCV001101303]|not provided [RCV000888634]|not specified [RCV000041917] Chr1:216422259 [GRCh38]
Chr1:216595601 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) single nucleotide variant Retinal dystrophy [RCV001074162]|Retinitis pigmentosa 39 [RCV003450896]|Usher syndrome [RCV000041918]|Usher syndrome type 2 [RCV001003288]|Usher syndrome type 2A [RCV000675158]|Usher syndrome type 2A [RCV001826601]|not provided [RCV001060026] Chr1:216327637 [GRCh38]
Chr1:216500979 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450897]|Usher syndrome type 2A [RCV000666401]|Usher syndrome type 2A [RCV001274237]|not provided [RCV002513606]|not specified [RCV000041919] Chr1:215888529 [GRCh38]
Chr1:216061871 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003450898]|Usher syndrome type 2A [RCV000477867]|Usher syndrome type 2A [RCV000670608]|not provided [RCV002513607]|not specified [RCV000041920] Chr1:215888449 [GRCh38]
Chr1:216061791 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) single nucleotide variant Rare genetic deafness [RCV000041921]|Retinitis pigmentosa 39 [RCV003450899]|Usher syndrome [RCV003389452]|Usher syndrome type 2A [RCV000669898]|Usher syndrome type 2A [RCV001831706]|not provided [RCV001852861] Chr1:216327619 [GRCh38]
Chr1:216500961 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8244C>T (p.Leu2748=) single nucleotide variant not specified [RCV000041922] Chr1:215879078 [GRCh38]
Chr1:216052420 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) single nucleotide variant Retinal dystrophy [RCV000504908]|Usher syndrome [RCV000787983]|Usher syndrome type 2A [RCV001276969]|Usher syndrome type 2A [RCV002496667]|not provided [RCV000910955]|not specified [RCV000041923] Chr1:215879002 [GRCh38]
Chr1:216052344 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV001579280]|Usher syndrome type 2A [RCV000490269]|Usher syndrome type 2A [RCV000665134]|not provided [RCV000937215]|not specified [RCV000041924] Chr1:215878980 [GRCh38]
Chr1:216052322 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003450900]|Usher syndrome type 2A [RCV001276968]|not provided [RCV000937134]|not specified [RCV000041925] Chr1:215878965 [GRCh38]
Chr1:216052307 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450901]|Usher syndrome type 2A [RCV001831707]|not provided [RCV001303130]|not specified [RCV000041926] Chr1:215878930 [GRCh38]
Chr1:216052272 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) single nucleotide variant Retinal dystrophy [RCV001074998]|Retinitis pigmentosa [RCV000505137]|Usher syndrome type 2A [RCV000664665]|not provided [RCV000937132]|not specified [RCV000041927] Chr1:215878891 [GRCh38]
Chr1:216052233 [GRCh37]
Chr1:1q41
likely pathogenic|benign|uncertain significance
NM_206933.4(USH2A):c.848+5G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003445130]|Retinitis pigmentosa [RCV001101205]|Usher syndrome type 2A [RCV001101204]|Usher syndrome type 2A [RCV002490583]|not provided [RCV000953434]|not specified [RCV000041928] Chr1:216327586 [GRCh38]
Chr1:216500928 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450903]|Usher syndrome type 2A [RCV000668111]|Usher syndrome type 2A [RCV003450902]|not provided [RCV001205867]|not specified [RCV000041929] Chr1:216325594 [GRCh38]
Chr1:216498936 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8559-2A>G single nucleotide variant Rare genetic deafness [RCV000824785]|Retinal dystrophy [RCV001075171]|Retinitis pigmentosa 39 [RCV003460553]|Retinitis pigmentosa [RCV000132715]|Usher syndrome [RCV000710341]|Usher syndrome type 2A [RCV000041930]|Usher syndrome type 2A [RCV000665497]|not provided [RCV000592589] Chr1:215877882 [GRCh38]
Chr1:216051224 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) single nucleotide variant not provided [RCV000932417]|not specified [RCV000041931] Chr1:215877864 [GRCh38]
Chr1:216051206 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003450904]|Usher syndrome type 2A [RCV001273713]|not provided [RCV000993543]|not specified [RCV000041932] Chr1:215877815 [GRCh38]
Chr1:216051157 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) single nucleotide variant Usher syndrome type 2A [RCV001273712]|Usher syndrome type 2A [RCV002496668]|not provided [RCV000434576]|not specified [RCV000041933] Chr1:215877783 [GRCh38]
Chr1:216051125 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) single nucleotide variant not provided [RCV000726267]|not specified [RCV000041934] Chr1:215867143 [GRCh38]
Chr1:216040485 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.879T>G (p.Leu293=) single nucleotide variant Retinitis pigmentosa [RCV001101203]|Usher syndrome type 2A [RCV001101202]|not provided [RCV000879540]|not specified [RCV000041935] Chr1:216325569 [GRCh38]
Chr1:216498911 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_206933.4(USH2A):c.8805C>T (p.Val2935=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450906]|Usher syndrome type 2A [RCV003450905]|not provided [RCV000910954]|not specified [RCV000041936] Chr1:215867047 [GRCh38]
Chr1:216040389 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) single nucleotide variant Rare genetic deafness [RCV000041937]|Retinal dystrophy [RCV001075814]|Retinitis pigmentosa 39 [RCV001376393]|Retinitis pigmentosa [RCV000504790]|Surfactant metabolism dysfunction, pulmonary, 2 [RCV003225026]|Usher syndrome [RCV001193386]|Usher syndrome type 2A [RCV000666550]|Usher syndrome type 2A [RCV001273709]|not provided [RCV000760327] Chr1:215845898 [GRCh38]
Chr1:216019240 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) single nucleotide variant Usher syndrome [RCV003389453]|Usher syndrome type 2A [RCV000669262]|Usher syndrome type 2A [RCV001276962]|not provided [RCV001248550]|not specified [RCV000041938] Chr1:215844481 [GRCh38]
Chr1:216017823 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter) single nucleotide variant Rare genetic deafness [RCV000041939] Chr1:215844393 [GRCh38]
Chr1:216017735 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) single nucleotide variant Usher syndrome type 2A [RCV001810414]|not provided [RCV000416029]|not specified [RCV000041940] Chr1:215844349 [GRCh38]
Chr1:216017691 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.920_923dup (p.His308fs) duplication Rare genetic deafness [RCV000824800]|Retinal dystrophy [RCV001074427]|Retinal dystrophy [RCV002226452]|Retinitis pigmentosa 39 [RCV000411255]|Retinitis pigmentosa [RCV000505107]|Usher syndrome [RCV000505018]|Usher syndrome type 2A [RCV000041941]|not provided [RCV000790675] Chr1:216325524..216325525 [GRCh38]
Chr1:216498866..216498867 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450907]|Usher syndrome type 2A [RCV001273706]|not provided [RCV000714162]|not specified [RCV000041942] Chr1:215844339 [GRCh38]
Chr1:216017681 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450908]|Usher syndrome type 2A [RCV000667786]|Usher syndrome type 2A [RCV001831708]|not provided [RCV002513608]|not specified [RCV000041943] Chr1:215844312 [GRCh38]
Chr1:216017654 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) single nucleotide variant Usher syndrome type 2A [RCV001276959]|Usher syndrome type 2A [RCV002490584]|not provided [RCV000585414]|not specified [RCV000041944] Chr1:215838100 [GRCh38]
Chr1:216011442 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.9278A>T (p.Tyr3093Phe) single nucleotide variant not specified [RCV000041945] Chr1:215838084 [GRCh38]
Chr1:216011426 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) single nucleotide variant Usher syndrome type 2A [RCV001273705]|not provided [RCV000756877]|not specified [RCV000041946] Chr1:215838066 [GRCh38]
Chr1:216011408 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) single nucleotide variant Rare genetic deafness [RCV000041947]|Retinitis pigmentosa 39 [RCV001588862]|not provided [RCV001216340] Chr1:215838058 [GRCh38]
Chr1:216011400 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9342A>G (p.Pro3114=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450910]|Usher syndrome type 2A [RCV000668119]|Usher syndrome type 2A [RCV003450909]|not provided [RCV001450882]|not specified [RCV000041948] Chr1:215838020 [GRCh38]
Chr1:216011362 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) single nucleotide variant Usher syndrome type 2A [RCV001273704]|not provided [RCV000087015]|not specified [RCV000041949] Chr1:215838019 [GRCh38]
Chr1:216011361 [GRCh37]
Chr1:1q41
benign|not provided
NM_206933.4(USH2A):c.9371+1G>C single nucleotide variant Rare genetic deafness [RCV000041950]|Retinitis pigmentosa 39 [RCV001376451]|Usher syndrome type 2A [RCV001002711]|not provided [RCV000726813] Chr1:215837990 [GRCh38]
Chr1:216011332 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.938C>A (p.Pro313His) single nucleotide variant not specified [RCV000041951] Chr1:216325510 [GRCh38]
Chr1:216498852 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) single nucleotide variant Inborn genetic diseases [RCV000624783]|Retinal dystrophy [RCV001074810]|Retinitis pigmentosa 39 [RCV003387741]|Retinitis pigmentosa [RCV001723630]|Usher syndrome [RCV000041952]|Usher syndrome type 2 [RCV001003263]|Usher syndrome type 2A [RCV001831709]|Usher syndrome type 2A [RCV002504928]|not provided [RCV001055909] Chr1:215817143 [GRCh38]
Chr1:215990485 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) single nucleotide variant Usher syndrome type 2A [RCV001273703]|not provided [RCV000993544]|not specified [RCV000041953] Chr1:215817137 [GRCh38]
Chr1:215990479 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) single nucleotide variant Rare genetic deafness [RCV000041954]|Retinal dystrophy [RCV001075710]|Retinitis pigmentosa 39 [RCV003450911]|Usher syndrome [RCV001778686]|Usher syndrome type 2A [RCV000674717]|Usher syndrome type 2A [RCV001273702]|not provided [RCV001388971] Chr1:215817108 [GRCh38]
Chr1:215990450 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9495T>C (p.Asp3165=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450913]|Usher syndrome type 2A [RCV003450912]|not provided [RCV000927487]|not specified [RCV000041955] Chr1:215817072 [GRCh38]
Chr1:215990414 [GRCh37]
Chr1:1q41
likely benign
NM_206933.2(USH2A):c.949C>A (p.Arg317=) single nucleotide variant Retinitis pigmentosa-deafness syndrome [RCV000041956]|Usher syndrome, type 2A [RCV000041956] Chr1:216325499 [GRCh38]
Chr1:216498841 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp) single nucleotide variant Usher syndrome type 2A [RCV001273700]|not provided [RCV001514233]|not specified [RCV000041957] Chr1:215813880 [GRCh38]
Chr1:215987222 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9636C>T (p.Ile3212=) single nucleotide variant not specified [RCV000041958] Chr1:215813839 [GRCh38]
Chr1:215987181 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450914]|Usher syndrome type 2A [RCV001273699]|not provided [RCV000972667]|not specified [RCV000041959] Chr1:215813752 [GRCh38]
Chr1:215987094 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) single nucleotide variant Rare genetic deafness [RCV000041960]|Retinal dystrophy [RCV001075163]|Retinitis pigmentosa 39 [RCV003450916]|Retinitis pigmentosa [RCV000787745]|Usher syndrome type 2A [RCV000668014]|Usher syndrome type 2A [RCV003450915]|not provided [RCV001044836] Chr1:215799066 [GRCh38]
Chr1:215972408 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003450917]|Usher syndrome type 2A [RCV001276953]|Usher syndrome type 2A [RCV002477136]|not provided [RCV000910459]|not specified [RCV000041961] Chr1:215798950 [GRCh38]
Chr1:215972292 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.9959-11T>G single nucleotide variant Retinitis pigmentosa 39 [RCV003445132]|Usher syndrome type 2A [RCV003445131]|not provided [RCV001519797]|not specified [RCV000041962] Chr1:215790293 [GRCh38]
Chr1:215963635 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile) single nucleotide variant not provided [RCV001033968]|not specified [RCV000041963] Chr1:215790252 [GRCh38]
Chr1:215963594 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) single nucleotide variant Retinal dystrophy [RCV001074760]|Retinitis pigmentosa 39 [RCV003466891]|Usher syndrome type 2A [RCV000670778]|not provided [RCV001362594]|not specified [RCV000041663] Chr1:216325448 [GRCh38]
Chr1:216498790 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) deletion Rare genetic deafness [RCV000041664]|Retinitis pigmentosa 39 [RCV000668813]|Usher syndrome type 2A [RCV003450730]|not provided [RCV000276776] Chr1:215786866..215786867 [GRCh38]
Chr1:215960208..215960209 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) single nucleotide variant Usher syndrome type 2A [RCV000986525]|not provided [RCV001514999]|not specified [RCV000041665] Chr1:215786825 [GRCh38]
Chr1:215960167 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1027T>G (p.Ser343Ala) single nucleotide variant not specified [RCV000041666] Chr1:216325421 [GRCh38]
Chr1:216498763 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) single nucleotide variant not provided [RCV000730170]|not specified [RCV000041667] Chr1:215782853 [GRCh38]
Chr1:215956195 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) single nucleotide variant Rare genetic deafness [RCV000824797]|Retinal dystrophy [RCV001074772]|Retinitis pigmentosa 39 [RCV000411779]|Retinitis pigmentosa [RCV001723627]|Usher syndrome [RCV000710349]|Usher syndrome type 2A [RCV000041668]|not provided [RCV000727128] Chr1:216325412 [GRCh38]
Chr1:216498754 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) single nucleotide variant Rare genetic deafness [RCV000041669]|Retinitis pigmentosa 39 [RCV003450731]|Usher syndrome type 2A [RCV000670189]|Usher syndrome type 2A [RCV001353056]|not provided [RCV000802347] Chr1:215782873 [GRCh38]
Chr1:215956215 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met) single nucleotide variant Usher syndrome type 2A [RCV000669162]|not provided [RCV001350663]|not specified [RCV000041670] Chr1:215782806 [GRCh38]
Chr1:215956148 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10524C>A (p.Thr3508=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450733]|Usher syndrome type 2A [RCV000673969]|Usher syndrome type 2A [RCV003450732]|not provided [RCV002054836]|not specified [RCV000041671] Chr1:215782799 [GRCh38]
Chr1:215956141 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003450734]|Usher syndrome type 2A [RCV001826586]|not provided [RCV000756878]|not specified [RCV000041672] Chr1:215782771 [GRCh38]
Chr1:215956113 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) single nucleotide variant Rare genetic deafness [RCV000824783]|Retinal dystrophy [RCV001074824]|Retinitis pigmentosa 39 [RCV001376413]|See cases [RCV002287354]|Usher syndrome [RCV000504880]|Usher syndrome type 2A [RCV000041673]|Usher syndrome type 2A [RCV000665210]|not provided [RCV001056065] Chr1:215782762 [GRCh38]
Chr1:215956104 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003466892]|Usher syndrome type 2A [RCV000667791]|not provided [RCV001852852]|not specified [RCV000041674] Chr1:215782738 [GRCh38]
Chr1:215956080 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) single nucleotide variant Retinal dystrophy [RCV001075735]|Retinitis pigmentosa 39 [RCV003450736]|Usher syndrome type 2A [RCV000671427]|Usher syndrome type 2A [RCV003450735]|not provided [RCV001852853]|not specified [RCV000041675] Chr1:215782115 [GRCh38]
Chr1:215955457 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) single nucleotide variant Nonsyndromic genetic hearing loss [RCV001544538]|Rare genetic deafness [RCV000824782]|Retinal dystrophy [RCV001073629]|Retinitis pigmentosa 39 [RCV001293034]|Retinitis pigmentosa [RCV003324502]|Usher syndrome [RCV003323372]|Usher syndrome type 2A [RCV000041676]|Usher syndrome type 2A [RCV000666226]|not provided [RCV000804464] Chr1:215782070 [GRCh38]
Chr1:215955412 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr) single nucleotide variant Rare genetic deafness [RCV000041677]|Retinal dystrophy [RCV001073926]|Retinitis pigmentosa 39 [RCV003450738]|Usher syndrome type 2A [RCV002496659]|Usher syndrome type 2A [RCV003450737]|not provided [RCV001852854] Chr1:215782058 [GRCh38]
Chr1:215955400 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) single nucleotide variant Rare genetic deafness [RCV000041678]|Retinitis pigmentosa 39 [RCV003450740]|Usher syndrome type 2A [RCV000664676]|Usher syndrome type 2A [RCV003450739]|not provided [RCV000522247] Chr1:215780023 [GRCh38]
Chr1:215953365 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) single nucleotide variant Usher syndrome type 2A [RCV001197373]|not provided [RCV000513386]|not specified [RCV000041679] Chr1:215780013 [GRCh38]
Chr1:215953355 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450741]|Usher syndrome type 2A [RCV001273695]|not provided [RCV000955867]|not specified [RCV000041680] Chr1:215779946 [GRCh38]
Chr1:215953288 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450743]|Usher syndrome type 2A [RCV002504921]|Usher syndrome type 2A [RCV003450742]|not provided [RCV000964832]|not specified [RCV000041681] Chr1:215779931 [GRCh38]
Chr1:215953273 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003450744]|Usher syndrome type 2A [RCV001274946]|not provided [RCV000972214]|not specified [RCV000041682] Chr1:215779924 [GRCh38]
Chr1:215953266 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) single nucleotide variant Usher syndrome type 2A [RCV000666661]|not provided [RCV002514158]|not specified [RCV000041683] Chr1:215779860 [GRCh38]
Chr1:215953202 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003450745]|Usher syndrome type 2A [RCV000669823]|Usher syndrome type 2A [RCV001271140]|not specified [RCV000041684] Chr1:215779849 [GRCh38]
Chr1:215953191 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11008G>A (p.Glu3670Lys) single nucleotide variant not provided [RCV001034416]|not specified [RCV000041685] Chr1:215766720 [GRCh38]
Chr1:215940062 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.11048-1G>A single nucleotide variant Rare genetic deafness [RCV000041686] Chr1:215759844 [GRCh38]
Chr1:215933186 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11121G>T (p.Lys3707Asn) single nucleotide variant not provided [RCV001059222]|not specified [RCV000041687] Chr1:215759770 [GRCh38]
Chr1:215933112 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln) single nucleotide variant Usher syndrome type 2A [RCV001271138]|not provided [RCV000513396]|not specified [RCV000041688] Chr1:215759700 [GRCh38]
Chr1:215933042 [GRCh37]
Chr1:1q41
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) single nucleotide variant not provided [RCV000727022]|not specified [RCV000041689] Chr1:215759666 [GRCh38]
Chr1:215933008 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11231+1G>T single nucleotide variant Rare genetic deafness [RCV000041690]|Usher syndrome type 2A [RCV003445114]|not provided [RCV002513592] Chr1:215759659 [GRCh38]
Chr1:215933001 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450746]|Usher syndrome type 2A [RCV000669587]|Usher syndrome type 2A [RCV001274943]|not provided [RCV002513593]|not specified [RCV000041691] Chr1:215758721 [GRCh38]
Chr1:215932063 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11389+15del deletion not specified [RCV000041692] Chr1:215758580 [GRCh38]
Chr1:215931922 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+9A>T single nucleotide variant Usher syndrome type 2A [RCV001532784]|not provided [RCV001513474]|not specified [RCV000041693] Chr1:215758586 [GRCh38]
Chr1:215931928 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) single nucleotide variant Usher syndrome type 2 [RCV002307376]|not provided [RCV001852855]|not specified [RCV000041694] Chr1:216325309 [GRCh38]
Chr1:216498651 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003450748]|Usher syndrome type 2A [RCV003450747]|not provided [RCV000828963]|not specified [RCV000041695] Chr1:215743321 [GRCh38]
Chr1:215916663 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) deletion Rare genetic deafness [RCV000041696]|Retinal dystrophy [RCV001074997]|Retinitis pigmentosa 39 [RCV000670912]|Usher syndrome type 2A [RCV001831699]|Usher syndrome type 2A [RCV002490580]|not provided [RCV001051639] Chr1:215743314 [GRCh38]
Chr1:215916656 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1143+1G>A single nucleotide variant Cone-rod dystrophy [RCV001199582]|Rare genetic deafness [RCV000041697]|Retinitis pigmentosa 39 [RCV003445116]|Usher syndrome type 2A [RCV003445115] Chr1:216325304 [GRCh38]
Chr1:216498646 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) single nucleotide variant Usher syndrome type 2A [RCV000986520]|Usher syndrome type 2A [RCV002490581]|not provided [RCV001517697]|not specified [RCV000041698] Chr1:215743221 [GRCh38]
Chr1:215916563 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) single nucleotide variant Usher syndrome type 2A [RCV001271134]|Usher syndrome type 2A [RCV002483031]|not provided [RCV001517696]|not specified [RCV000041699] Chr1:215741484 [GRCh38]
Chr1:215914826 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003450750]|Usher syndrome type 2A [RCV000668179]|Usher syndrome type 2A [RCV003450749]|not specified [RCV000041700] Chr1:215741437 [GRCh38]
Chr1:215914779 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450751]|Usher syndrome type 2A [RCV001271133]|not provided [RCV000993536]|not specified [RCV000041701] Chr1:215741409 [GRCh38]
Chr1:215914751 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450752]|Usher syndrome type 2A [RCV001271131]|not provided [RCV000714156]|not specified [RCV000041702] Chr1:215728360 [GRCh38]
Chr1:215901702 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450754]|Usher syndrome type 2A [RCV003450753]|not provided [RCV000955866]|not specified [RCV000041703] Chr1:215728302 [GRCh38]
Chr1:215901644 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) single nucleotide variant Retinitis pigmentosa [RCV000360778]|Usher syndrome type 2A [RCV000308355]|not provided [RCV000890954]|not specified [RCV000041704] Chr1:216324317 [GRCh38]
Chr1:216497659 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450755]|Usher syndrome type 2A [RCV001271130]|not provided [RCV000714157]|not specified [RCV000041706] Chr1:215728189 [GRCh38]
Chr1:215901531 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) single nucleotide variant Retinitis pigmentosa 39 [RCV001579153]|Usher syndrome type 2A [RCV000986519]|not provided [RCV000725418]|not specified [RCV000041707] Chr1:215728169 [GRCh38]
Chr1:215901511 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) single nucleotide variant Usher syndrome type 2A [RCV000119822]|not provided [RCV000955280]|not specified [RCV000041708] Chr1:215728168 [GRCh38]
Chr1:215901510 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=) single nucleotide variant Usher syndrome type 2A [RCV001271129]|not provided [RCV001514998]|not specified [RCV000041709] Chr1:215728150 [GRCh38]
Chr1:215901492 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) single nucleotide variant Rare genetic deafness [RCV000041710]|Retinal dystrophy [RCV001075329]|Retinitis pigmentosa 39 [RCV003450757]|Usher syndrome [RCV003226175]|Usher syndrome type 2A [RCV000669396]|Usher syndrome type 2A [RCV003450756]|not provided [RCV001852856] Chr1:215728142 [GRCh38]
Chr1:215901484 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12067-1G>C single nucleotide variant Rare genetic deafness [RCV000041711]|Retinitis pigmentosa 39 [RCV003445118]|Usher syndrome type 2A [RCV000670110]|Usher syndrome type 2A [RCV003445117]|not provided [RCV001852857] Chr1:215680377 [GRCh38]
Chr1:215853719 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12067-2A>G single nucleotide variant Rare genetic deafness [RCV000390593]|Retinal dystrophy [RCV001073917]|Retinitis pigmentosa 39 [RCV000983997]|Usher syndrome type 2 [RCV001003259]|Usher syndrome type 2A [RCV000666727]|Usher syndrome type 2A [RCV001271128]|not provided [RCV000412841] Chr1:215680378 [GRCh38]
Chr1:215853720 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450758]|Usher syndrome type 2A [RCV001271127]|not provided [RCV000949878]|not specified [RCV000041713] Chr1:215680350 [GRCh38]
Chr1:215853692 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.12295-2A>G single nucleotide variant Rare genetic deafness [RCV000041714]|Retinal dystrophy [RCV001074339]|Retinitis pigmentosa 39 [RCV003445119]|Usher syndrome type 2A [RCV000670554]|Usher syndrome type 2A [RCV001826587]|not provided [RCV001057968] Chr1:215675618 [GRCh38]
Chr1:215848960 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1227G>C (p.Trp409Cys) single nucleotide variant Rare genetic deafness [RCV000041715] Chr1:216324269 [GRCh38]
Chr1:216497611 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12294+1G>C single nucleotide variant Rare genetic deafness [RCV000041716]|Usher syndrome type 2A [RCV003445120]|not provided [RCV001386543] Chr1:215680148 [GRCh38]
Chr1:215853490 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12295-3T>A single nucleotide variant Retinal dystrophy [RCV001074786]|Retinitis pigmentosa 39 [RCV000675157]|Retinitis pigmentosa [RCV001723628]|Usher syndrome [RCV001004773]|not provided [RCV000414389]|not specified [RCV000041717] Chr1:215675619 [GRCh38]
Chr1:215848961 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV001376289]|Retinitis pigmentosa [RCV001270357]|Usher syndrome type 2A [RCV001274935]|Usher syndrome type 2A [RCV002496660]|not provided [RCV001241616]|not specified [RCV000041718] Chr1:215675579 [GRCh38]
Chr1:215848921 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) single nucleotide variant Retinal dystrophy [RCV001074716]|Usher syndrome type 2A [RCV000986518]|not provided [RCV000727295]|not specified [RCV000041719] Chr1:215675568 [GRCh38]
Chr1:215848910 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) single nucleotide variant Retinitis pigmentosa 39 [RCV003450759]|Usher syndrome type 2A [RCV000668020]|Usher syndrome type 2A [RCV001826588]|not provided [RCV002513594]|not specified [RCV000041720] Chr1:215675549 [GRCh38]
Chr1:215848891 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450761]|Usher syndrome type 2A [RCV003450760]|not provided [RCV000513931]|not specified [RCV000041721] Chr1:215675466 [GRCh38]
Chr1:215848808 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) single nucleotide variant Retinal dystrophy [RCV001075259]|Usher syndrome type 2A [RCV001274932]|not provided [RCV000767175]|not specified [RCV000041722] Chr1:215675354 [GRCh38]
Chr1:215848696 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12558T>C (p.Ile4186=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450763]|Usher syndrome type 2A [RCV003450762]|not provided [RCV000993538]|not specified [RCV000041723] Chr1:215675353 [GRCh38]
Chr1:215848695 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450765]|Usher syndrome type 2A [RCV003450764]|not provided [RCV000894796]|not specified [RCV000041725] Chr1:215675303 [GRCh38]
Chr1:215848645 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) single nucleotide variant Usher syndrome type 2A [RCV001271123]|not provided [RCV001511032]|not specified [RCV000041726] Chr1:215675245 [GRCh38]
Chr1:215848587 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) single nucleotide variant Inborn genetic diseases [RCV002513595]|Retinitis pigmentosa 39 [RCV003450766]|Usher syndrome type 2A [RCV000664798]|Usher syndrome type 2A [RCV001271122]|not provided [RCV001243519]|not specified [RCV000041727] Chr1:215675244 [GRCh38]
Chr1:215848586 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) single nucleotide variant Rare genetic deafness [RCV000041728]|Usher syndrome type 2A [RCV003450767]|not provided [RCV001852858] Chr1:215675197 [GRCh38]
Chr1:215848539 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) single nucleotide variant Rare genetic deafness [RCV000041729]|Usher syndrome [RCV003389451]|Usher syndrome type 2A [RCV003450768] Chr1:215675172 [GRCh38]
Chr1:215848514 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450769]|Usher syndrome type 2A [RCV001826589]|Usher syndrome type 2A [RCV002504922]|not provided [RCV000756886]|not specified [RCV000041730] Chr1:215675168 [GRCh38]
Chr1:215848510 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) single nucleotide variant Rare genetic deafness [RCV000041731]|Retinal dystrophy [RCV001074436]|Retinitis pigmentosa 39 [RCV003450771]|Usher syndrome type 2A [RCV000670430]|Usher syndrome type 2A [RCV003450770]|not provided [RCV000819445] Chr1:215675043 [GRCh38]
Chr1:215848385 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) single nucleotide variant Retinal dystrophy [RCV001075301]|Retinitis pigmentosa 39 [RCV003460549]|Retinitis pigmentosa [RCV000504620]|Usher syndrome [RCV001252674]|Usher syndrome type 2A [RCV001810411]|not provided [RCV001231366]|not specified [RCV000041732] Chr1:215675037 [GRCh38]
Chr1:215848379 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) single nucleotide variant Usher syndrome type 2A [RCV001272947]|not provided [RCV001246661]|not specified [RCV000041733] Chr1:215675028 [GRCh38]
Chr1:215848370 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe) single nucleotide variant not specified [RCV000041734] Chr1:215674889 [GRCh38]
Chr1:215848231 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) single nucleotide variant Rare genetic deafness [RCV000824778]|Retinitis pigmentosa 39 [RCV000410671]|Usher syndrome type 2A [RCV000041735]|not provided [RCV000725789] Chr1:215674781 [GRCh38]
Chr1:215848123 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=) single nucleotide variant Usher syndrome type 2A [RCV001276155]|not provided [RCV001514232]|not specified [RCV000041736] Chr1:215674720 [GRCh38]
Chr1:215848062 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.13222G>A (p.Val4408Ile) single nucleotide variant not provided [RCV002513596]|not specified [RCV000041737] Chr1:215674689 [GRCh38]
Chr1:215848031 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450772]|Usher syndrome type 2A [RCV001826590]|not provided [RCV000087006]|not specified [RCV000041738] Chr1:215674614 [GRCh38]
Chr1:215847956 [GRCh37]
Chr1:1q41
benign|likely benign|not provided
NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) single nucleotide variant Rare genetic deafness [RCV000041739]|Retinal dystrophy [RCV001073672]|Retinitis pigmentosa 39 [RCV003450773]|not provided [RCV002514159] Chr1:215674598 [GRCh38]
Chr1:215847940 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) single nucleotide variant Retinitis pigmentosa [RCV000505044]|Usher syndrome [RCV001004775]|Usher syndrome type 2A [RCV000672135]|Usher syndrome type 2A [RCV001272942]|not provided [RCV001035021]|not specified [RCV000041740] Chr1:215674515 [GRCh38]
Chr1:215847857 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|uncertain significance
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450774]|Usher syndrome type 2A [RCV001831700]|not provided [RCV000908912]|not specified [RCV000041741] Chr1:215674507 [GRCh38]
Chr1:215847849 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) single nucleotide variant Retinitis pigmentosa 39 [RCV001579144]|Usher syndrome type 2A [RCV001276154]|not provided [RCV000488103]|not specified [RCV000041742] Chr1:215674471 [GRCh38]
Chr1:215847813 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13622A>C (p.Gln4541Pro) single nucleotide variant not provided [RCV002513597]|not specified [RCV000041743] Chr1:215674289 [GRCh38]
Chr1:215847631 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450776]|Usher syndrome type 2A [RCV003450775]|not provided [RCV000980514]|not specified [RCV000041744] Chr1:215674207 [GRCh38]
Chr1:215847549 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) single nucleotide variant Retinitis pigmentosa 39 [RCV001376370]|Usher syndrome type 2A [RCV001272941]|not provided [RCV000585560]|not specified [RCV000041745] Chr1:215674202 [GRCh38]
Chr1:215847544 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450777]|Usher syndrome type 2A [RCV001276153]|Usher syndrome type 2A [RCV002504923]|not provided [RCV000880724]|not specified [RCV000041746] Chr1:215674148 [GRCh38]
Chr1:215847490 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450779]|Usher syndrome type 2A [RCV003450778]|not provided [RCV000828964]|not specified [RCV000041747] Chr1:215671121 [GRCh38]
Chr1:215844463 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg) single nucleotide variant Familial aplasia of the vermis [RCV000627015]|not provided [RCV002513598]|not specified [RCV000041748] Chr1:215671078 [GRCh38]
Chr1:215844420 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) single nucleotide variant Usher syndrome type 2A [RCV000669410]|Usher syndrome type 2A [RCV001532872]|not provided [RCV000756882]|not specified [RCV000041750] Chr1:215671031 [GRCh38]
Chr1:215844373 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV001376435]|Usher syndrome type 2A [RCV001272937]|not provided [RCV001245454]|not specified [RCV000041751] Chr1:215671004 [GRCh38]
Chr1:215844346 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) single nucleotide variant Rare genetic deafness [RCV000041752]|Retinitis pigmentosa 39 [RCV003450783]|Usher syndrome type 2A [RCV000674521]|Usher syndrome type 2A [RCV003450782]|not provided [RCV001380766] Chr1:215650755 [GRCh38]
Chr1:215824097 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14184C>T (p.Cys4728=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450785]|Usher syndrome type 2A [RCV000666988]|Usher syndrome type 2A [RCV003450784]|not provided [RCV000977632]|not specified [RCV000041753] Chr1:215650751 [GRCh38]
Chr1:215824093 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) single nucleotide variant Retinitis pigmentosa [RCV000296291]|Usher syndrome type 2A [RCV000349320]|not provided [RCV001515003]|not specified [RCV000041754] Chr1:216323605 [GRCh38]
Chr1:216496947 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450787]|Usher syndrome type 2A [RCV003450786]|not provided [RCV000714159]|not specified [RCV000041755] Chr1:215650709 [GRCh38]
Chr1:215824051 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) single nucleotide variant Rare genetic deafness [RCV000041756]|Retinitis pigmentosa 39 [RCV003450788]|Usher syndrome type 2A [RCV000665736]|Usher syndrome type 2A [RCV001198544]|not provided [RCV001057445] Chr1:215650648 [GRCh38]
Chr1:215823990 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003450789]|Usher syndrome type 2A [RCV001826591]|not provided [RCV000894587]|not specified [RCV000041757] Chr1:215650620 [GRCh38]
Chr1:215823962 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.14322C>T (p.Ser4774=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450791]|Usher syndrome type 2A [RCV003450790]|not provided [RCV000952468]|not specified [RCV000041758] Chr1:215650613 [GRCh38]
Chr1:215823955 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003450792]|Usher syndrome type 2A [RCV001826592]|not provided [RCV000755429]|not specified [RCV000041759] Chr1:215650602 [GRCh38]
Chr1:215823944 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) single nucleotide variant Retinitis pigmentosa [RCV001099109]|Usher syndrome type 2A [RCV001099108]|not provided [RCV000828962]|not specified [RCV000041760] Chr1:216323590 [GRCh38]
Chr1:216496932 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450793]|Usher syndrome type 2A [RCV001276149]|not provided [RCV000714160]|not specified [RCV000041761] Chr1:215648629 [GRCh38]
Chr1:215821971 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450794]|Usher syndrome type 2A [RCV001276148]|not provided [RCV000714161]|not specified [RCV000041762] Chr1:215648597 [GRCh38]
Chr1:215821939 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) single nucleotide variant Retinitis pigmentosa 39 [RCV001579147]|Usher syndrome type 2A [RCV000665634]|Usher syndrome type 2A [RCV001272933]|not provided [RCV001034422]|not specified [RCV000041763] Chr1:215648594 [GRCh38]
Chr1:215821936 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) single nucleotide variant not provided [RCV000732156]|not specified [RCV000041764] Chr1:215648593 [GRCh38]
Chr1:215821935 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) single nucleotide variant Hearing impairment [RCV001375381]|Retinal dystrophy [RCV001073664]|Retinitis pigmentosa 39 [RCV003450795]|Usher syndrome type 2A [RCV001197951]|Usher syndrome type 2A [RCV002477134]|not provided [RCV000766738]|not specified [RCV000041765] Chr1:215648591 [GRCh38]
Chr1:215821933 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14531C>T (p.Thr4844Met) single nucleotide variant not provided [RCV001038994]|not specified [RCV000041766] Chr1:215648579 [GRCh38]
Chr1:215821921 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003450796]|Usher syndrome type 2A [RCV001276147]|Usher syndrome type 2A [RCV002496662]|not provided [RCV001509630]|not specified [RCV000041767] Chr1:215648567 [GRCh38]
Chr1:215821909 [GRCh37]
Chr1:1q41
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) single nucleotide variant Usher syndrome type 2A [RCV001272930]|not provided [RCV000725431]|not specified [RCV000041768] Chr1:215647649 [GRCh38]
Chr1:215820991 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14817G>A (p.Ser4939=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450798]|Usher syndrome type 2A [RCV000666105]|Usher syndrome type 2A [RCV003450797]|not provided [RCV001372368]|not specified [RCV000041769] Chr1:215640709 [GRCh38]
Chr1:215814051 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) single nucleotide variant not provided [RCV000726815]|not specified [RCV000041770] Chr1:216323538 [GRCh38]
Chr1:216496880 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14901C>T (p.Thr4967=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450800]|Usher syndrome type 2A [RCV003450799]|not provided [RCV000975530]|not specified [RCV000041771] Chr1:215640625 [GRCh38]
Chr1:215813967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) single nucleotide variant Cone-rod dystrophy [RCV000787726]|Rare genetic deafness [RCV000041772]|Retinitis pigmentosa 39 [RCV003450802]|Usher syndrome [RCV003114221]|Usher syndrome type 2A [RCV000671978]|Usher syndrome type 2A [RCV003450801]|not provided [RCV001852859] Chr1:215640615 [GRCh38]
Chr1:215813957 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14928C>G (p.Gly4976=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450804]|Usher syndrome type 2A [RCV000666937]|Usher syndrome type 2A [RCV003450803]|not provided [RCV001243190]|not specified [RCV000041773] Chr1:215640598 [GRCh38]
Chr1:215813940 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003450806]|Usher syndrome type 2A [RCV003450805]|not provided [RCV000755428]|not specified [RCV000041774] Chr1:215640566 [GRCh38]
Chr1:215813908 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003450808]|Usher syndrome type 2A [RCV003450807]|not provided [RCV001201627]|not specified [RCV000041775] Chr1:215639169 [GRCh38]
Chr1:215812511 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450809]|Usher syndrome type 2A [RCV001276143]|not provided [RCV001509629]|not specified [RCV000041776] Chr1:215634680 [GRCh38]
Chr1:215808022 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.15090G>A (p.Ser5030=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450811]|Usher syndrome type 2A [RCV003450810]|not provided [RCV000914892]|not specified [RCV000041777] Chr1:215634666 [GRCh38]
Chr1:215808008 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) single nucleotide variant Usher syndrome type 2A [RCV000674670]|Usher syndrome type 2A [RCV001271911]|not provided [RCV000087008]|not specified [RCV000041778] Chr1:215634665 [GRCh38]
Chr1:215808007 [GRCh37]
Chr1:1q41
benign|likely benign|not provided
NM_206933.4(USH2A):c.15102C>T (p.Ser5034=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450813]|Usher syndrome type 2A [RCV003450812]|not provided [RCV000980920]|not specified [RCV000041779] Chr1:215634654 [GRCh38]
Chr1:215807996 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15144G>A (p.Ala5048=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450815]|Usher syndrome type 2A [RCV000664750]|Usher syndrome type 2A [RCV003450814]|not provided [RCV000928342]|not specified [RCV000041780] Chr1:215634612 [GRCh38]
Chr1:215807954 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450817]|Usher syndrome type 2A [RCV003450816]|not provided [RCV000726707]|not specified [RCV000041781] Chr1:216323502 [GRCh38]
Chr1:216496844 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15297+3A>G single nucleotide variant Usher syndrome [RCV000710336]|not provided [RCV000911991]|not specified [RCV000041782] Chr1:215634456 [GRCh38]
Chr1:215807798 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.15321C>T (p.Pro5107=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450819]|Usher syndrome type 2A [RCV003450818]|not provided [RCV002054837]|not specified [RCV000041783] Chr1:215629012 [GRCh38]
Chr1:215802354 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) single nucleotide variant Usher syndrome type 2A [RCV001810412]|Usher syndrome type 2A [RCV002483032]|not provided [RCV001247642]|not specified [RCV000041784] Chr1:215628969 [GRCh38]
Chr1:215802311 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450820]|Usher syndrome type 2A [RCV001276138]|Usher syndrome type 2A [RCV002504924]|not provided [RCV000971261]|not specified [RCV000041785] Chr1:215628956 [GRCh38]
Chr1:215802298 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) single nucleotide variant Retinitis pigmentosa 39 [RCV003450821]|Usher syndrome type 2A [RCV001276137]|not provided [RCV000883059]|not specified [RCV000041786] Chr1:215628905 [GRCh38]
Chr1:215802247 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) single nucleotide variant Retinitis pigmentosa [RCV000504930]|Usher syndrome [RCV000787986]|Usher syndrome type 2A [RCV001271907]|Usher syndrome type 2A [RCV002483033]|not provided [RCV000585242]|not specified [RCV000041787] Chr1:215628900 [GRCh38]
Chr1:215802242 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003460550]|Usher syndrome type 2A [RCV001276136]|Usher syndrome type 2A [RCV002504925]|not provided [RCV002513599]|not specified [RCV000041788] Chr1:215628837 [GRCh38]
Chr1:215802179 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.15501G>A (p.Met5167Ile) single nucleotide variant not specified [RCV000041789] Chr1:215628832 [GRCh38]
Chr1:215802174 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450822]|Usher syndrome type 2A [RCV001276135]|Usher syndrome type 2A [RCV002496663]|not provided [RCV000993539]|not specified [RCV000041790] Chr1:215625868 [GRCh38]
Chr1:215799210 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) single nucleotide variant Usher syndrome [RCV000710325]|Usher syndrome type 2A [RCV000986512]|Usher syndrome type 2A [RCV002504926]|not provided [RCV001509628]|not specified [RCV000041791] Chr1:215625828 [GRCh38]
Chr1:215799170 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450823]|Usher syndrome type 2A [RCV000665727]|Usher syndrome type 2A [RCV001831701]|not provided [RCV000488160]|not specified [RCV000041792] Chr1:216321971 [GRCh38]
Chr1:216495313 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) single nucleotide variant Usher syndrome type 2A [RCV001826593]|not provided [RCV000726814]|not specified [RCV000041793] Chr1:216321937 [GRCh38]
Chr1:216495279 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) single nucleotide variant Rare genetic deafness [RCV000041794]|Retinal dystrophy [RCV001074602]|Retinitis pigmentosa 39 [RCV000678646]|Retinitis pigmentosa [RCV000787727]|Usher syndrome type 2A [RCV000984314]|Usher syndrome type 2A [RCV002483034]|not provided [RCV000413438] Chr1:216321921 [GRCh38]
Chr1:216495263 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) single nucleotide variant Retinitis pigmentosa 39 [RCV001376290]|Retinitis pigmentosa [RCV001003284]|Usher syndrome type 2A [RCV001101110]|not provided [RCV000415970]|not specified [RCV000041795] Chr1:216292352 [GRCh38]
Chr1:216465694 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1722T>G (p.Pro574=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450825]|Usher syndrome type 2A [RCV000670515]|Usher syndrome type 2A [RCV003450824]|not provided [RCV002513600]|not specified [RCV000041796] Chr1:216292293 [GRCh38]
Chr1:216465635 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450826]|Retinitis pigmentosa [RCV000318869]|Usher syndrome type 2A [RCV000266096]|not provided [RCV000923505]|not specified [RCV000041797] Chr1:216292284 [GRCh38]
Chr1:216465626 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) single nucleotide variant Inborn genetic diseases [RCV002514160]|Retinitis pigmentosa 39 [RCV003450827]|Usher syndrome type 2A [RCV001835652]|not provided [RCV001244894]|not specified [RCV000041798] Chr1:216292199 [GRCh38]
Chr1:216465541 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1841-2A>G single nucleotide variant Nonsyndromic genetic hearing loss [RCV001544537]|Rare genetic deafness [RCV000041799]|Retinitis pigmentosa 39 [RCV000984014]|USH2A-Related Disorders [RCV000270130]|Usher syndrome type 2 [RCV002470736]|Usher syndrome type 2A [RCV000665036]|Usher syndrome type 2A [RCV001271238]|not provided [RCV001069761] Chr1:216289412 [GRCh38]
Chr1:216462754 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003450828]|Usher syndrome type 2A [RCV000665675]|Usher syndrome type 2A [RCV001271236]|not specified [RCV000041800] Chr1:216289374 [GRCh38]
Chr1:216462716 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) single nucleotide variant Retinitis pigmentosa [RCV001100843]|Usher syndrome type 2A [RCV001099036]|Usher syndrome type 2A [RCV002490582]|not provided [RCV000087009]|not specified [RCV000041801] Chr1:216289320 [GRCh38]
Chr1:216462662 [GRCh37]
Chr1:1q41
benign|likely benign|not provided
NM_206933.4(USH2A):c.1934C>T (p.Thr645Ile) single nucleotide variant not specified [RCV000041802] Chr1:216289317 [GRCh38]
Chr1:216462659 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003450829]|Usher syndrome type 2A [RCV001831702]|not provided [RCV001307495]|not specified [RCV000041803] Chr1:216289297 [GRCh38]
Chr1:216462639 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) single nucleotide variant Familial aplasia of the vermis [RCV000627016]|Retinal dystrophy [RCV001075196]|Retinitis pigmentosa [RCV000505164]|Usher syndrome [RCV001171539]|Usher syndrome type 2A [RCV001099033]|Usher syndrome type 2A [RCV002483035]|not provided [RCV000658550]|not specified [RCV000041804] Chr1:216289285 [GRCh38]
Chr1:216462627 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) single nucleotide variant Retinitis pigmentosa [RCV001097279]|Usher syndrome type 2A [RCV000986546]|not provided [RCV000888471]|not specified [RCV000041805] Chr1:216251018 [GRCh38]
Chr1:216424360 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) single nucleotide variant Retinitis pigmentosa [RCV001097277]|Usher syndrome type 2A [RCV001097278]|not provided [RCV000993540]|not specified [RCV000041806] Chr1:216250961 [GRCh38]
Chr1:216424303 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450830]|Retinitis pigmentosa [RCV000298396]|Usher syndrome type 2A [RCV000677329]|not provided [RCV000087010]|not specified [RCV000041807] Chr1:216250933 [GRCh38]
Chr1:216424275 [GRCh37]
Chr1:1q41
benign|likely benign|not provided
NM_206933.4(USH2A):c.2167+4C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003445121]|Usher syndrome type 2A [RCV000666387]|Usher syndrome type 2A [RCV001275023]|not provided [RCV002513601]|not specified [RCV000041808] Chr1:216250899 [GRCh38]
Chr1:216424241 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2256T>C (p.His752=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450831]|Retinitis pigmentosa [RCV001101007]|Usher syndrome type 2A [RCV001101008]|Usher syndrome type 2A [RCV002483036]|not provided [RCV000513238]|not specified [RCV000041810] Chr1:216247138 [GRCh38]
Chr1:216420480 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) single nucleotide variant Hearing impairment [RCV000754555]|Progressive cone dystrophy (without rod involvement) [RCV000787896]|Retinitis pigmentosa [RCV000504801]|Usher syndrome [RCV001775076]|Usher syndrome type 2A [RCV001100748]|not provided [RCV000488324]|not specified [RCV000041813] Chr1:216246872 [GRCh38]
Chr1:216420214 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) single nucleotide variant Retinitis pigmentosa [RCV001098935]|Usher syndrome type 2A [RCV000986544]|not provided [RCV000946559]|not specified [RCV000041814] Chr1:216246848 [GRCh38]
Chr1:216420190 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) single nucleotide variant Retinal dystrophy [RCV001075031]|Retinitis pigmentosa 39 [RCV001376238]|Usher syndrome type 2A [RCV000666896]|not provided [RCV001560407]|not specified [RCV000041815] Chr1:216422073 [GRCh38]
Chr1:216595415 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2732C>A (p.Thr911Asn) single nucleotide variant not specified [RCV000041816] Chr1:216246662 [GRCh38]
Chr1:216420004 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2777G>A (p.Arg926His) single nucleotide variant Retinal dystrophy [RCV001074040]|Retinitis pigmentosa 39 [RCV003450833]|Usher syndrome type 2A [RCV000665768]|Usher syndrome type 2A [RCV003450832]|not provided [RCV001243252]|not specified [RCV000041817] Chr1:216246617 [GRCh38]
Chr1:216419959 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2829C>A (p.Gly943=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450835]|Usher syndrome type 2A [RCV003450834]|not provided [RCV002054838]|not specified [RCV000041818] Chr1:216232117 [GRCh38]
Chr1:216405459 [GRCh37]
Chr1:1q41
likely benign
NM_206933.2(USH2A):c.2898delG (p.Thr967Leufs) deletion Retinitis pigmentosa-deafness syndrome [RCV000041819]|Usher syndrome, type 2A [RCV000041819] Chr1:216232048 [GRCh38]
Chr1:216405390 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2989G>A (p.Gly997Arg) single nucleotide variant not specified [RCV000041820] Chr1:216231957 [GRCh38]
Chr1:216405299 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV001578841]|Retinitis pigmentosa [RCV001097184]|Usher syndrome type 2A [RCV001097185]|not provided [RCV000487811]|not specified [RCV000041821] Chr1:216217421 [GRCh38]
Chr1:216390763 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) single nucleotide variant Usher syndrome type 2A [RCV000668396]|not provided [RCV001470222]|not specified [RCV000041822] Chr1:216422024 [GRCh38]
Chr1:216595366 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3158-6A>G single nucleotide variant Rare genetic deafness [RCV000041823]|Retinitis pigmentosa 39 [RCV003460551]|Usher syndrome [RCV000505082] Chr1:216207437 [GRCh38]
Chr1:216380779 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003450837]|Usher syndrome type 2A [RCV003450836]|not provided [RCV002514161]|not specified [RCV000041824] Chr1:216207419 [GRCh38]
Chr1:216380761 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) single nucleotide variant Rare genetic deafness [RCV000824791]|Retinal dystrophy [RCV001074200]|Retinitis pigmentosa 39 [RCV003450838]|Usher syndrome type 2A [RCV000041825]|Usher syndrome type 2A [RCV000669871]|not provided [RCV001386859] Chr1:216207280 [GRCh38]
Chr1:216380622 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003450839]|Retinitis pigmentosa [RCV001100646]|Usher syndrome type 2A [RCV001100647]|Usher syndrome type 2A [RCV002496664]|not provided [RCV000756884]|not specified [RCV000041826] Chr1:216200074 [GRCh38]
Chr1:216373416 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003450840]|Usher syndrome type 2A [RCV001831703]|not provided [RCV001061173]|not specified [RCV000041827] Chr1:216200033 [GRCh38]
Chr1:216373375 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3435del (p.Val1147fs) deletion Rare genetic deafness [RCV000824790]|Usher syndrome type 2A [RCV000041828] Chr1:216200003 [GRCh38]
Chr1:216373345 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) microsatellite Rare genetic deafness [RCV000824789]|Retinitis pigmentosa 39 [RCV000410392]|USH2A-Related Disorders [RCV000301597]|Usher syndrome [RCV001004618]|Usher syndrome type 2A [RCV000041829]|not provided [RCV001388470] Chr1:216199890..216199891 [GRCh38]
Chr1:216373232..216373233 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) deletion Rare genetic deafness [RCV000824788]|Retinal dystrophy [RCV001073532]|Retinitis pigmentosa 39 [RCV000411413]|Usher syndrome type 2A [RCV000041830]|not provided [RCV001213213] Chr1:216199880 [GRCh38]
Chr1:216373222 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) single nucleotide variant Retinitis pigmentosa [RCV000341412]|Usher syndrome type 2A [RCV000394479]|not provided [RCV000974887]|not specified [RCV000041831] Chr1:216199817 [GRCh38]
Chr1:216373159 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) single nucleotide variant Inborn genetic diseases [RCV003162354]|Retinitis pigmentosa [RCV000291877]|Usher syndrome type 2A [RCV000346771]|Usher syndrome type 2A [RCV000669144]|not provided [RCV002513602]|not specified [RCV000041832] Chr1:216199738 [GRCh38]
Chr1:216373080 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) single nucleotide variant Retinitis pigmentosa [RCV000344307]|Usher syndrome type 2A [RCV000291734]|not provided [RCV001515004]|not specified [RCV000041833] Chr1:216421964 [GRCh38]
Chr1:216595306 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3812-8T>G single nucleotide variant Retinitis pigmentosa [RCV000261033]|Usher syndrome type 2A [RCV000316207]|not provided [RCV001515002]|not specified [RCV000041834] Chr1:216198592 [GRCh38]
Chr1:216371934 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) single nucleotide variant Retinitis pigmentosa 39 [RCV001376513]|Retinitis pigmentosa [RCV000505069]|Usher syndrome [RCV000787994]|Usher syndrome type 1 [RCV000219904]|Usher syndrome type 2A [RCV000986538]|Usher syndrome type 2A [RCV002496665]|not provided [RCV000488230]|not specified [RCV000041835] Chr1:216198494 [GRCh38]
Chr1:216371836 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) single nucleotide variant Retinitis pigmentosa [RCV001100533]|Usher syndrome type 2A [RCV001100534]|not provided [RCV000993542]|not specified [RCV000041836] Chr1:216198451 [GRCh38]
Chr1:216371793 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) single nucleotide variant Retinal dystrophy [RCV001074345]|Retinitis pigmentosa 39 [RCV001376516]|Retinitis pigmentosa [RCV001723629]|Usher syndrome [RCV002307377]|Usher syndrome type 2A [RCV000665274]|Usher syndrome type 2A [RCV003326116]|not provided [RCV000726718]|not specified [RCV000041837] Chr1:216196698 [GRCh38]
Chr1:216370040 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) microsatellite Rare genetic deafness [RCV000041838]|Usher syndrome type 2A [RCV001199964]|not provided [RCV001387596] Chr1:216196669..216196670 [GRCh38]
Chr1:216370011..216370012 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4335T>C (p.Thr1445=) single nucleotide variant Retinitis pigmentosa 39 [RCV003450842]|Usher syndrome type 2A [RCV003450841]|not provided [RCV000967813]|not specified [RCV000041839] Chr1:216190284 [GRCh38]
Chr1:216363626 [GRCh37]
Chr1:1q41
likely benign
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:216396695-217549806)x1 copy number loss See cases [RCV000053952] Chr1:216396695..217549806 [GRCh38]
Chr1:216570037..217723148 [GRCh37]
Chr1:214636660..215789771 [NCBI36]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe) single nucleotide variant Usher syndrome type 2A [RCV000664814] Chr1:215674652 [GRCh38]
Chr1:215847994 [GRCh37]
Chr1:213914617 [NCBI36]
Chr1:1q41
uncertain significance|not provided
NM_206933.2(USH2A):c.1720C>T (p.Pro574Ser) single nucleotide variant Malignant melanoma [RCV000060084] Chr1:216292295 [GRCh38]
Chr1:216465637 [GRCh37]
Chr1:214532260 [NCBI36]
Chr1:1q41
not provided
NM_206933.2(USH2A):c.15547G>C (p.Ala5183Pro) single nucleotide variant Malignant melanoma [RCV000064524] Chr1:215625843 [GRCh38]
Chr1:215799185 [GRCh37]
Chr1:213865808 [NCBI36]
Chr1:1q41
not provided
NM_206933.2(USH2A):c.14604G>A (p.Val4868=) single nucleotide variant Malignant melanoma [RCV000064525] Chr1:215647709 [GRCh38]
Chr1:215821051 [GRCh37]
Chr1:213887674 [NCBI36]
Chr1:1q41
not provided
NM_206933.2(USH2A):c.11671G>A (p.Glu3891Lys) single nucleotide variant Malignant melanoma [RCV000064526] Chr1:215741415 [GRCh38]
Chr1:215914757 [GRCh37]
Chr1:213981380 [NCBI36]
Chr1:1q41
not provided
NM_206933.2(USH2A):c.10886G>A (p.Gly3629Glu) single nucleotide variant Malignant melanoma [RCV000064527] Chr1:215779896 [GRCh38]
Chr1:215953238 [GRCh37]
Chr1:214019861 [NCBI36]
Chr1:1q41
not provided
NM_206933.4(USH2A):c.9487C>T (p.Gln3163Ter) single nucleotide variant Malignant melanoma [RCV000064528] Chr1:215817080 [GRCh38]
Chr1:215990422 [GRCh37]
Chr1:214057045 [NCBI36]
Chr1:1q41
pathogenic|not provided
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) single nucleotide variant Retinal dystrophy [RCV001073325]|Retinitis pigmentosa 39 [RCV003460656]|Retinitis pigmentosa [RCV001723641]|Usher syndrome [RCV001252675]|Usher syndrome type 2A [RCV002498352]|not provided [RCV001036584] Chr1:215817134 [GRCh38]
Chr1:215990476 [GRCh37]
Chr1:214057099 [NCBI36]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance|not provided
NM_206933.2(USH2A):c.9198G>A (p.Met3066Ile) single nucleotide variant Malignant melanoma [RCV000064530] Chr1:215844354 [GRCh38]
Chr1:216017696 [GRCh37]
Chr1:214084319 [NCBI36]
Chr1:1q41
not provided
NM_206933.2(USH2A):c.8379T>C (p.Ile2793=) single nucleotide variant Malignant melanoma [RCV000064531] Chr1:215878943 [GRCh38]
Chr1:216052285 [GRCh37]
Chr1:214118908 [NCBI36]
Chr1:1q41
not provided
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003450921]|Usher syndrome type 2A [RCV000665915]|Usher syndrome type 2A [RCV003450920]|not provided [RCV002514312] Chr1:215888481 [GRCh38]
Chr1:216061823 [GRCh37]
Chr1:214128446 [NCBI36]
Chr1:1q41
uncertain significance|not provided
NM_206933.2(USH2A):c.8003A>T (p.Glu2668Val) single nucleotide variant Malignant melanoma [RCV000064533] Chr1:215888646 [GRCh38]
Chr1:216061988 [GRCh37]
Chr1:214128611 [NCBI36]
Chr1:1q41
not provided
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln) single nucleotide variant not provided [RCV001460059]|not specified [RCV000222430] Chr1:216097195 [GRCh38]
Chr1:216270537 [GRCh37]
Chr1:214337160 [NCBI36]
Chr1:1q41
likely benign|uncertain significance|not provided
NM_206933.4(USH2A):c.1637G>A (p.Gly546Glu) single nucleotide variant not provided [RCV002796689] Chr1:216321890 [GRCh38]
Chr1:216495232 [GRCh37]
Chr1:214561855 [NCBI36]
Chr1:1q41
uncertain significance|not provided
NM_206933.2(USH2A):c.394C>T (p.His132Tyr) single nucleotide variant Malignant melanoma [RCV000064536] Chr1:216421943 [GRCh38]
Chr1:216595285 [GRCh37]
Chr1:214661908 [NCBI36]
Chr1:1q41
not provided
NM_206933.4(USH2A):c.12093C>A (p.Tyr4031Ter) single nucleotide variant not provided [RCV000657930] Chr1:215680350 [GRCh38]
Chr1:215853692 [GRCh37]
Chr1:1q41
pathogenic
NM_016121.3(KCTD3):c.1992C>T (p.Ser664=) single nucleotide variant Malignant melanoma [RCV000064523] Chr1:215620162 [GRCh38]
Chr1:215793504 [GRCh37]
Chr1:213860127 [NCBI36]
Chr1:1q41
not provided
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) duplication Rare genetic deafness [RCV000041749]|Retinitis pigmentosa 39 [RCV003450781]|Usher syndrome type 2A [RCV002496661]|Usher syndrome type 2A [RCV003450780]|not provided [RCV001380769] Chr1:215671073..215671074 [GRCh38]
Chr1:215844415..215844416 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5001dup (p.Gly1668fs) duplication Rare genetic deafness [RCV000041852] Chr1:216084863..216084864 [GRCh38]
Chr1:216258205..216258206 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) microsatellite Retinal dystrophy [RCV001074195]|Retinitis pigmentosa 39 [RCV000671759]|Usher syndrome type 2A [RCV001271126]|not provided [RCV000082828] Chr1:215680208..215680209 [GRCh38]
Chr1:215853550..215853551 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) single nucleotide variant Retinal dystrophy [RCV001075205]|Retinitis pigmentosa 39 [RCV001376458]|Usher syndrome type 2A [RCV000675016]|Usher syndrome type 2A [RCV001002688]|not provided [RCV000760348] Chr1:215970720 [GRCh38]
Chr1:216144062 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro) single nucleotide variant Retinitis pigmentosa [RCV001723661]|Usher syndrome [RCV003230399]|not provided [RCV000082831] Chr1:215888734 [GRCh38]
Chr1:216062076 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=) single nucleotide variant not provided [RCV000082832] Chr1:215846023 [GRCh38]
Chr1:216019365 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14792-2A>G single nucleotide variant Retinal dystrophy [RCV001074825]|Retinitis pigmentosa 39 [RCV001376202]|Usher syndrome [RCV002469009]|Usher syndrome type 2A [RCV003445508]|not provided [RCV000087007] Chr1:215640736 [GRCh38]
Chr1:215814078 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|not provided
NM_206933.4(USH2A):c.1724G>T (p.Cys575Phe) single nucleotide variant Usher syndrome type 2A [RCV000119823] Chr1:216292291 [GRCh38]
Chr1:216465633 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) single nucleotide variant Cone-rod dystrophy [RCV000787729]|Usher syndrome [RCV001089677]|Usher syndrome type 2A [RCV000119824]|Usher syndrome type 2A [RCV000675179]|not provided [RCV001231408] Chr1:216200031 [GRCh38]
Chr1:216373373 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7475C>A (p.Ser2492Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453052]|Usher syndrome type 2A [RCV000119825]|not provided [RCV000444053] Chr1:215900194 [GRCh38]
Chr1:216073536 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6657+1G>A single nucleotide variant Usher syndrome type 2A [RCV001002691]|not provided [RCV002549189] Chr1:215998886 [GRCh38]
Chr1:216172228 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2049A>G (p.Leu683=) single nucleotide variant not provided [RCV001494524] Chr1:216251021 [GRCh38]
Chr1:216424363 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4457= (p.Arg1486=) single nucleotide variant not provided [RCV000946558]|not specified [RCV000154339] Chr1:216175422 [GRCh38]
Chr1:216348764 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6317= (p.Ile2106=) single nucleotide variant not provided [RCV000948179]|not specified [RCV000154356] Chr1:216046439 [GRCh38]
Chr1:216219781 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6957+19A>G single nucleotide variant Usher syndrome type 2A [RCV001533609]|not provided [RCV001519567]|not specified [RCV000126250] Chr1:215970606 [GRCh38]
Chr1:216143948 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8681+18A>G single nucleotide variant Usher syndrome type 2A [RCV001533605]|not provided [RCV001513424]|not specified [RCV000126253] Chr1:215877740 [GRCh38]
Chr1:216051082 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12612= (p.Thr4204=) single nucleotide variant not provided [RCV000948579]|not specified [RCV000152568] Chr1:215675299 [GRCh38]
Chr1:215848641 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4429G>T (p.Gly1477Ter) single nucleotide variant not provided [RCV000171168] Chr1:216175450 [GRCh38]
Chr1:216348792 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) single nucleotide variant Retinal dystrophy [RCV001074255]|Retinitis pigmentosa 39 [RCV003453277]|Usher syndrome type 2A [RCV000668946]|Usher syndrome type 2A [RCV001829851]|not provided [RCV001062119] Chr1:215680211 [GRCh38]
Chr1:215853553 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly) single nucleotide variant Inborn genetic diseases [RCV002545595]|Retinitis pigmentosa 39 [RCV003449977]|Usher syndrome type 2A [RCV001825947]|not provided [RCV001348716] Chr1:215674488 [GRCh38]
Chr1:215847830 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5167+1G>T single nucleotide variant Usher syndrome type 2A [RCV003445606]|not provided [RCV000176600] Chr1:216084697 [GRCh38]
Chr1:216258039 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.15212C>T (p.Pro5071Leu) single nucleotide variant not provided [RCV001312333] Chr1:215634544 [GRCh38]
Chr1:215807886 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7595-3C>G single nucleotide variant Retinal dystrophy [RCV001075871]|Retinitis pigmentosa 39 [RCV003445607]|USH2A-related condition [RCV003422073]|Usher syndrome [RCV000504696]|Usher syndrome type 2A [RCV000669197]|Usher syndrome type 2A [RCV001542728]|not provided [RCV000178475] Chr1:215889057 [GRCh38]
Chr1:216062399 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8682-9A>G single nucleotide variant Retinal dystrophy [RCV001074617]|Retinitis pigmentosa 39 [RCV000666303]|Retinitis pigmentosa [RCV001723753]|USH2A-related condition [RCV003416093]|Usher syndrome [RCV000710348]|Usher syndrome type 2A [RCV001842795]|not provided [RCV000255827] Chr1:215867179 [GRCh38]
Chr1:216040521 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) single nucleotide variant Usher syndrome type 2A [RCV000190638]|not provided [RCV001852532] Chr1:216175474 [GRCh38]
Chr1:216348816 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) single nucleotide variant Retinal dystrophy [RCV001075614]|Retinitis pigmentosa 39 [RCV003454452]|Usher syndrome type 2A [RCV001826903]|not provided [RCV000177821]|not specified [RCV001002426] Chr1:215998943 [GRCh38]
Chr1:216172285 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
Single allele duplication Usher syndrome, type 2A [RCV000179575] Chr1:216498866..216498867 [GRCh37] pathogenic
NM_206933.4(USH2A):c.11549-5dup duplication Retinitis pigmentosa 39 [RCV003445613]|Usher syndrome type 2A [RCV001826917]|not provided [RCV001522561]|not specified [RCV000179586] Chr1:215741541..215741542 [GRCh38]
Chr1:215914883..215914884 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) microsatellite Retinal dystrophy [RCV001073824]|Retinitis pigmentosa 39 [RCV001376411]|Retinitis pigmentosa [RCV000505154]|Usher syndrome type 2A [RCV000671027]|Usher syndrome type 2A [RCV001826918]|not provided [RCV000179599] Chr1:215728220..215728221 [GRCh38]
Chr1:215901562..215901563 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) single nucleotide variant Retinal dystrophy [RCV001074360]|Retinitis pigmentosa 39 [RCV003454469]|Retinitis pigmentosa [RCV000504835]|Usher syndrome [RCV001449693]|Usher syndrome type 2A [RCV000179630]|Usher syndrome type 2A [RCV000666708]|not provided [RCV000724329] Chr1:215674595 [GRCh38]
Chr1:215847937 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14502_14503del (p.Pro4835fs) microsatellite not provided [RCV000179668] Chr1:215648607..215648608 [GRCh38]
Chr1:215821949..215821950 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) single nucleotide variant Retinal dystrophy [RCV001073681]|Retinitis pigmentosa 39 [RCV000179099]|Retinitis pigmentosa [RCV000505000]|USH2A-related condition [RCV003407663]|Usher syndrome [RCV001174974]|Usher syndrome type 2A [RCV000190637]|Usher syndrome type 2A [RCV000515419]|not provided [RCV000482080] Chr1:215790168 [GRCh38]
Chr1:215963510 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.11548+11T>G single nucleotide variant not provided [RCV002089073] Chr1:215743166 [GRCh38]
Chr1:215916508 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3811+154T>C single nucleotide variant not provided [RCV001545393] Chr1:216199473 [GRCh38]
Chr1:216372815 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10740+9A>C single nucleotide variant not provided [RCV002188350] Chr1:215782033 [GRCh38]
Chr1:215955375 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9886G>A (p.Gly3296Ser) single nucleotide variant not provided [RCV001348375] Chr1:215798979 [GRCh38]
Chr1:215972321 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys) single nucleotide variant Usher syndrome type 2A [RCV001836270]|not provided [RCV001302831] Chr1:215759736 [GRCh38]
Chr1:215933078 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003449859]|Usher syndrome type 2A [RCV003449858]|not provided [RCV001302838]|not specified [RCV003387989] Chr1:215790267 [GRCh38]
Chr1:215963609 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) single nucleotide variant Leber congenital amaurosis [RCV000144475]|Retinitis pigmentosa 39 [RCV003453102]|Retinitis pigmentosa [RCV001101006]|Usher syndrome type 2A [RCV000665419]|Usher syndrome type 2A [RCV001100751]|not provided [RCV002514776] Chr1:216246980 [GRCh38]
Chr1:216420322 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4758+3A>G single nucleotide variant Leber congenital amaurosis [RCV000144478]|Retinitis pigmentosa 39 [RCV003445558]|Usher syndrome type 2A [RCV000986536]|Usher syndrome type 2A [RCV002492523]|not provided [RCV000907794]|not specified [RCV000599908] Chr1:216097080 [GRCh38]
Chr1:216270422 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.15298-1176A>G single nucleotide variant Retinitis pigmentosa 39 [RCV001591149]|Usher syndrome [RCV000504642] Chr1:215630211 [GRCh38]
Chr1:215803553 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|uncertain significance
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) single nucleotide variant Rare genetic deafness [RCV000824796]|Retinal dystrophy [RCV001075415]|Retinitis pigmentosa 39 [RCV000665487]|USH2A-Related Disorders [RCV001836644]|Usher syndrome [RCV000504656]|Usher syndrome type 2A [RCV001834622]|not provided [RCV000804683] Chr1:216325393 [GRCh38]
Chr1:216498735 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.14343+71A>G single nucleotide variant not provided [RCV001545596] Chr1:215650521 [GRCh38]
Chr1:215823863 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10663G>A (p.Glu3555Lys) single nucleotide variant not provided [RCV001294547] Chr1:215782119 [GRCh38]
Chr1:215955461 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003449863]|Usher syndrome type 2A [RCV003449862]|not provided [RCV001303804] Chr1:215674938 [GRCh38]
Chr1:215848280 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003449892]|Usher syndrome type 2A [RCV001835527]|not provided [RCV001312540] Chr1:215675550 [GRCh38]
Chr1:215848892 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) single nucleotide variant Retinal dystrophy [RCV001075572]|Retinitis pigmentosa 39 [RCV000678635]|Usher syndrome [RCV001171534]|Usher syndrome type 2A [RCV000256390]|not provided [RCV001240204] Chr1:216078145 [GRCh38]
Chr1:216251487 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9258+1G>A single nucleotide variant Retinal dystrophy [RCV001074509]|Retinitis pigmentosa 39 [RCV002059062]|Usher syndrome type 2A [RCV000256404]|Usher syndrome type 2A [RCV000672669]|not provided [RCV001091127] Chr1:215844293 [GRCh38]
Chr1:216017635 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003452998]|Usher syndrome type 2A [RCV000670196]|Usher syndrome type 2A [RCV001826710]|not provided [RCV001203088]|not specified [RCV000219472] Chr1:216199789 [GRCh38]
Chr1:216373131 [GRCh37]
Chr1:214439754 [NCBI36]
Chr1:1q41
uncertain significance|not provided
NM_206933.4(USH2A):c.5837G>T (p.Arg1946Leu) single nucleotide variant Malignant tumor of prostate [RCV000149394] Chr1:216072909 [GRCh38]
Chr1:216246251 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly) single nucleotide variant not provided [RCV000174816] Chr1:216231954 [GRCh38]
Chr1:216405296 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3 copy number gain See cases [RCV000136585] Chr1:214023812..216598173 [GRCh38]
Chr1:214197155..216771515 [GRCh37]
Chr1:212263778..214838138 [NCBI36]
Chr1:1q32.3-41
uncertain significance
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) single nucleotide variant Retinitis pigmentosa [RCV001100642]|Usher syndrome type 2A [RCV001100643]|not provided [RCV000175255] Chr1:216199949 [GRCh38]
Chr1:216373291 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=) single nucleotide variant not provided [RCV000175382] Chr1:216198535 [GRCh38]
Chr1:216371877 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1q41(chr1:216092120-216123973)x1 copy number loss See cases [RCV000140149] Chr1:216092120..216123973 [GRCh38]
Chr1:216265462..216297315 [GRCh37]
Chr1:214332085..214363938 [NCBI36]
Chr1:1q41
likely benign
GRCh38/hg38 1q41(chr1:216244646-216387988)x3 copy number gain See cases [RCV000141885] Chr1:216244646..216387988 [GRCh38]
Chr1:216417988..216561330 [GRCh37]
Chr1:214484611..214627953 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3 copy number gain See cases [RCV000142206] Chr1:214028574..217327791 [GRCh38]
Chr1:214201917..217501133 [GRCh37]
Chr1:212268540..215567756 [NCBI36]
Chr1:1q32.3-41
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) duplication Rare genetic deafness [RCV000155748]|Retinitis pigmentosa 39 [RCV003467214]|Usher syndrome type 2A [RCV003453179]|not provided [RCV001850132] Chr1:216251077..216251078 [GRCh38]
Chr1:216424419..216424420 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln) single nucleotide variant Usher syndrome type 2A [RCV000671917]|not specified [RCV000155755] Chr1:215728274 [GRCh38]
Chr1:215901616 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) single nucleotide variant Retinitis pigmentosa [RCV000336096]|Usher syndrome type 2A [RCV000388226]|not provided [RCV000827304]|not specified [RCV000155770] Chr1:216323494 [GRCh38]
Chr1:216496836 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.10896C>T (p.Leu3632=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453181]|Usher syndrome type 2A [RCV003453180]|not provided [RCV001403829]|not specified [RCV000155852] Chr1:215779886 [GRCh38]
Chr1:215953228 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter) single nucleotide variant Rare genetic deafness [RCV000155859] Chr1:215759746 [GRCh38]
Chr1:215933088 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.-1C>G single nucleotide variant Usher syndrome type 2A [RCV001826842]|not specified [RCV000155876] Chr1:216422337 [GRCh38]
Chr1:216595679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14332G>T (p.Ala4778Ser) single nucleotide variant not specified [RCV000155898] Chr1:215650603 [GRCh38]
Chr1:215823945 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2228G>T (p.Gly743Val) single nucleotide variant not specified [RCV000155899] Chr1:216247166 [GRCh38]
Chr1:216420508 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15546C>T (p.Asn5182=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453183]|Usher syndrome type 2A [RCV003453182]|not provided [RCV000933774]|not specified [RCV000155907] Chr1:215625844 [GRCh38]
Chr1:215799186 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) single nucleotide variant Retinal dystrophy [RCV000225490]|Retinitis pigmentosa 39 [RCV001376535]|Retinitis pigmentosa [RCV001098834]|Usher syndrome type 2A [RCV000668970]|Usher syndrome type 2A [RCV001098833]|not provided [RCV001227048]|not specified [RCV000155915] Chr1:216199854 [GRCh38]
Chr1:216373196 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) single nucleotide variant Retinal dystrophy [RCV001074861]|Retinitis pigmentosa 39 [RCV001376534]|Usher syndrome type 2A [RCV000666703]|Usher syndrome type 2A [RCV001273698]|not provided [RCV001227049]|not specified [RCV000155917] Chr1:215799023 [GRCh38]
Chr1:215972365 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.14602G>A (p.Val4868Met) single nucleotide variant Inborn genetic diseases [RCV002516140]|not provided [RCV002305452]|not specified [RCV000155960] Chr1:215647711 [GRCh38]
Chr1:215821053 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) single nucleotide variant Usher syndrome type 2A [RCV000666822]|not provided [RCV000943628]|not specified [RCV000155979] Chr1:216323576 [GRCh38]
Chr1:216496918 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) microsatellite Retinitis pigmentosa 39 [RCV003453184]|Usher syndrome type 2A [RCV000665431]|Usher syndrome type 2A [RCV001831970]|not provided [RCV001338786]|not specified [RCV000155998] Chr1:215741391..215741393 [GRCh38]
Chr1:215914733..215914735 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del deletion not provided [RCV001032170] Chr1:216078089..216078362 [GRCh38]
Chr1:216251431..216251704 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.2(USH2A):c.(?_4628)_(4987_?)del deletion not provided [RCV001031162] Chr1:216086719..216097213 [GRCh38]
Chr1:216260061..216270555 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003462061]|Usher syndrome type 2A [RCV000673498]|Usher syndrome type 2A [RCV001831971]|not provided [RCV001731487]|not specified [RCV000156012] Chr1:216327618 [GRCh38]
Chr1:216500960 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003453185]|Usher syndrome type 2A [RCV000666166]|Usher syndrome type 2A [RCV001835697]|not provided [RCV001239118]|not specified [RCV000156013] Chr1:216073121 [GRCh38]
Chr1:216246463 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453187]|Usher syndrome type 2A [RCV003453186]|not provided [RCV000939969]|not specified [RCV000156040] Chr1:215790266 [GRCh38]
Chr1:215963608 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003453189]|Usher syndrome type 2A [RCV003453188]|not provided [RCV000939968]|not specified [RCV000156055] Chr1:215786745 [GRCh38]
Chr1:215960087 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453190]|Usher syndrome type 2A [RCV000664495]|Usher syndrome type 2A [RCV001826846]|not provided [RCV001850148]|not specified [RCV000156132] Chr1:216292367 [GRCh38]
Chr1:216465709 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) single nucleotide variant Rare genetic deafness [RCV000152630]|Retinitis pigmentosa 39 [RCV003474803]|Usher syndrome type 2A [RCV003453141]|not provided [RCV001857523] Chr1:216246853 [GRCh38]
Chr1:216420195 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.485+12T>C single nucleotide variant Retinal dystrophy [RCV001073743]|Retinitis pigmentosa [RCV000383355]|Usher syndrome type 2A [RCV000349749]|not provided [RCV001520246]|not specified [RCV000152638] Chr1:216421840 [GRCh38]
Chr1:216595182 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) single nucleotide variant Rare genetic deafness [RCV000156228]|Retinitis pigmentosa 39 [RCV003453191]|Usher syndrome type 2A [RCV001826849]|not provided [RCV002515013] Chr1:215650687 [GRCh38]
Chr1:215824029 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) single nucleotide variant Rare genetic deafness [RCV000156272]|Retinitis pigmentosa 39 [RCV003462062]|Usher syndrome [RCV003479025] Chr1:216418533 [GRCh38]
Chr1:216591875 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del deletion Rare genetic deafness [RCV000156302] Chr1:215867007..215867170 [GRCh38]
Chr1:216040349..216040512 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) single nucleotide variant Usher syndrome [RCV000710332]|Usher syndrome type 2A [RCV000668449]|Usher syndrome type 2A [RCV001831975]|not provided [RCV001850155]|not specified [RCV000156334] Chr1:215888472 [GRCh38]
Chr1:216061814 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) single nucleotide variant Usher syndrome type 2A [RCV000986531]|not provided [RCV001513475]|not specified [RCV000154111] Chr1:216046439 [GRCh38]
Chr1:216219781 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003453193]|Usher syndrome type 2A [RCV003453192]|not provided [RCV000917849]|not specified [RCV000156359] Chr1:215647651 [GRCh38]
Chr1:215820993 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.10232= (p.Glu3411=) single nucleotide variant not specified [RCV000154357] Chr1:215786825 [GRCh38]
Chr1:215960167 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) single nucleotide variant Usher syndrome type 2A [RCV001273696]|not provided [RCV000732182]|not specified [RCV000154358] Chr1:215779956 [GRCh38]
Chr1:215953298 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) single nucleotide variant Usher syndrome type 2A [RCV001272929]|not provided [RCV000724181]|not specified [RCV000154359] Chr1:215647560 [GRCh38]
Chr1:215820902 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) single nucleotide variant Rare genetic deafness [RCV000824777]|Retinal dystrophy [RCV001073844]|Retinitis pigmentosa 39 [RCV000411616]|Usher syndrome type 2A [RCV000410556]|Usher syndrome type 2A [RCV002505168]|not provided [RCV001054211] Chr1:215640723 [GRCh38]
Chr1:215814065 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1784T>C (p.Phe595Ser) single nucleotide variant not provided [RCV001054255]|not specified [RCV000156533] Chr1:216292231 [GRCh38]
Chr1:216465573 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) single nucleotide variant not provided [RCV000724829]|not specified [RCV000156541] Chr1:215674814 [GRCh38]
Chr1:215848156 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) single nucleotide variant Inborn genetic diseases [RCV002515026]|Usher syndrome type 2A [RCV001276957]|not provided [RCV000727102]|not specified [RCV000156547] Chr1:215813787 [GRCh38]
Chr1:215987129 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11549-5del deletion Retinitis pigmentosa 39 [RCV003445583]|Usher syndrome type 2A [RCV001271135]|not provided [RCV001522859]|not specified [RCV000154396] Chr1:215741542 [GRCh38]
Chr1:215914884 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003453156]|Usher syndrome type 2A [RCV001276146]|not provided [RCV002305451]|not specified [RCV000154420] Chr1:215639221 [GRCh38]
Chr1:215812563 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.3(USH2A):c.12295-?_14133+?del deletion Rare genetic deafness [RCV000154497]|Usher syndrome [RCV000710333]|not provided [RCV001031135] Chr1:215670972..215675616 [GRCh38]
Chr1:215844314..215848958 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003462063]|Retinitis pigmentosa [RCV000505112]|USH2A-related condition [RCV003416014]|Usher syndrome [RCV001004787]|not provided [RCV000725477]|not specified [RCV000156571] Chr1:216084853 [GRCh38]
Chr1:216258195 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003453195]|Usher syndrome type 2A [RCV000671448]|Usher syndrome type 2A [RCV003453194]|not provided [RCV002516339]|not specified [RCV000156572] Chr1:215675034 [GRCh38]
Chr1:215848376 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His) single nucleotide variant Usher syndrome type 2A [RCV000668542]|not provided [RCV003311698]|not specified [RCV000156623] Chr1:215625809 [GRCh38]
Chr1:215799151 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6141G>A (p.Leu2047=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453197]|Usher syndrome type 2A [RCV000664557]|Usher syndrome type 2A [RCV003453196]|not provided [RCV001392873]|not specified [RCV000156638] Chr1:216048556 [GRCh38]
Chr1:216221898 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) single nucleotide variant Usher syndrome type 2A [RCV000763828]|Usher syndrome type 2A [RCV001271141]|not provided [RCV002516341]|not specified [RCV000156642] Chr1:215779878 [GRCh38]
Chr1:215953220 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1143+12C>T single nucleotide variant Usher syndrome type 2A [RCV000666853]|not provided [RCV002516342]|not specified [RCV000156643] Chr1:216325293 [GRCh38]
Chr1:216498635 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys) single nucleotide variant Usher syndrome type 2A [RCV000666738]|not provided [RCV001238988]|not specified [RCV000156650] Chr1:215680168 [GRCh38]
Chr1:215853510 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|uncertain significance
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) single nucleotide variant Retinitis pigmentosa [RCV000505103]|Usher syndrome [RCV000787981]|Usher syndrome type 2A [RCV000669868]|Usher syndrome type 2A [RCV001272935]|not provided [RCV000908911]|not specified [RCV000154570] Chr1:215650659 [GRCh38]
Chr1:215824001 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14454G>A (p.Pro4818=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453161]|Usher syndrome type 2A [RCV001826831]|not provided [RCV000756885]|not specified [RCV000154585] Chr1:215648656 [GRCh38]
Chr1:215821998 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) single nucleotide variant Usher syndrome type 2A [RCV001533662]|not provided [RCV001515001]|not specified [RCV000154668] Chr1:216175422 [GRCh38]
Chr1:216348764 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453162]|Usher syndrome type 2A [RCV001532780]|not provided [RCV001511033]|not specified [RCV000154669] Chr1:215675299 [GRCh38]
Chr1:215848641 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV000678650]|Retinitis pigmentosa [RCV000286781]|Usher syndrome type 2A [RCV000378937]|Usher syndrome type 2A [RCV000667957]|not provided [RCV001070473]|not specified [RCV000156761] Chr1:216217499 [GRCh38]
Chr1:216390841 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8265T>C (p.Leu2755=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453202]|Usher syndrome type 2A [RCV000671451]|Usher syndrome type 2A [RCV003453201]|not specified [RCV000156801] Chr1:215879057 [GRCh38]
Chr1:216052399 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9621T>C (p.Cys3207=) single nucleotide variant not specified [RCV000156832] Chr1:215813854 [GRCh38]
Chr1:215987196 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13808A>G (p.His4603Arg) single nucleotide variant not specified [RCV000156862] Chr1:215674103 [GRCh38]
Chr1:215847445 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003453203]|Usher syndrome type 2A [RCV000666306]|Usher syndrome type 2A [RCV001278867]|not specified [RCV000156867] Chr1:215728140 [GRCh38]
Chr1:215901482 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) single nucleotide variant Rare genetic deafness [RCV000156887]|Retinitis pigmentosa [RCV000787718]|Usher syndrome type 2A [RCV003453204]|not provided [RCV002515040] Chr1:215743285 [GRCh38]
Chr1:215916627 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) deletion Rare genetic deafness [RCV000824786]|Retinal dystrophy [RCV001074210]|Retinitis pigmentosa 39 [RCV000412258]|Usher syndrome type 2 [RCV001199802]|Usher syndrome type 2A [RCV000156895]|Usher syndrome type 2A [RCV002498773]|not provided [RCV000487657] Chr1:216070273 [GRCh38]
Chr1:216243615 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003453205]|Usher syndrome type 2A [RCV000669395]|Usher syndrome type 2A [RCV001826857]|not specified [RCV000156922] Chr1:216321926 [GRCh38]
Chr1:216495268 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003453163]|Usher syndrome type 2A [RCV000986513]|Usher syndrome type 2A [RCV002492585]|not provided [RCV000886746]|not specified [RCV000155316] Chr1:215628906 [GRCh38]
Chr1:215802248 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453165]|Usher syndrome type 2A [RCV003453164]|not provided [RCV000922199]|not specified [RCV000155319] Chr1:215647559 [GRCh38]
Chr1:215820901 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453167]|Usher syndrome type 2A [RCV003453166]|not provided [RCV000910810]|not specified [RCV000155320] Chr1:215680355 [GRCh38]
Chr1:215853697 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) single nucleotide variant Usher syndrome type 2A [RCV001272951]|not provided [RCV000724907]|not specified [RCV000155321] Chr1:215675313 [GRCh38]
Chr1:215848655 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV001579277]|Usher syndrome type 2A [RCV000664687]|Usher syndrome type 2A [RCV001274938]|not provided [RCV001244553]|not specified [RCV000155322] Chr1:215728281 [GRCh38]
Chr1:215901623 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) single nucleotide variant Inborn genetic diseases [RCV002514994]|Usher syndrome type 2A [RCV001271132]|not provided [RCV001473378]|not specified [RCV000155323] Chr1:215728362 [GRCh38]
Chr1:215901704 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11597C>T (p.Ala3866Val) single nucleotide variant Usher syndrome type 2A [RCV001197770]|not provided [RCV001531657]|not specified [RCV000155324] Chr1:215741489 [GRCh38]
Chr1:215914831 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003453168]|Usher syndrome type 2A [RCV000986522]|not provided [RCV000911992]|not specified [RCV000155325] Chr1:215782813 [GRCh38]
Chr1:215956155 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453170]|Usher syndrome type 2A [RCV003453169]|not provided [RCV000928255]|not specified [RCV000155326] Chr1:215999020 [GRCh38]
Chr1:216172362 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) single nucleotide variant Usher syndrome type 2A [RCV000986533]|not provided [RCV000891558]|not specified [RCV000155327] Chr1:216073249 [GRCh38]
Chr1:216246591 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.5496G>A (p.Val1832=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453172]|Usher syndrome type 2A [RCV003453171]|not provided [RCV000941030]|not specified [RCV000155328] Chr1:216078165 [GRCh38]
Chr1:216251507 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) single nucleotide variant Usher syndrome type 2A [RCV001273050]|not provided [RCV000723740]|not specified [RCV000155329] Chr1:216084817 [GRCh38]
Chr1:216258159 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001376456]|Usher syndrome [RCV003479024]|Usher syndrome type 2A [RCV000765070]|Usher syndrome type 2A [RCV001276257]|not provided [RCV001381659]|not specified [RCV000155330] Chr1:216190241 [GRCh38]
Chr1:216363583 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2001C>T (p.His667=) single nucleotide variant Retinitis pigmentosa [RCV000310998]|Usher syndrome type 2A [RCV000396635]|not provided [RCV000925735]|not specified [RCV000155331] Chr1:216251069 [GRCh38]
Chr1:216424411 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) single nucleotide variant Retinal dystrophy [RCV001073261]|Usher syndrome [RCV001804867]|Usher syndrome type 2A [RCV001810429]|not provided [RCV001051381]|not specified [RCV000155332] Chr1:216247062 [GRCh38]
Chr1:216420404 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.*4A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003445573]|Usher syndrome type 2A [RCV003445572]|not provided [RCV001689699]|not specified [RCV000152561] Chr1:215625777 [GRCh38]
Chr1:215799119 [GRCh37]
Chr1:1q41
benign|likely benign|not provided
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003453115]|Usher syndrome type 2A [RCV000666221]|Usher syndrome type 2A [RCV001826813]|not provided [RCV001239388]|not specified [RCV000152563] Chr1:215634475 [GRCh38]
Chr1:215807817 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser) single nucleotide variant Usher syndrome type 2A [RCV000668395]|not specified [RCV000152564] Chr1:215670997 [GRCh38]
Chr1:215844339 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) deletion Rare genetic deafness [RCV000152565]|Retinal dystrophy [RCV000504893]|Retinitis pigmentosa 39 [RCV000666832]|Usher syndrome type 2A [RCV003453116]|not provided [RCV000493634] Chr1:215674537 [GRCh38]
Chr1:215847879 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12633T>G (p.Ile4211Met) single nucleotide variant not specified [RCV000152567] Chr1:215675278 [GRCh38]
Chr1:215848620 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12462T>C (p.Pro4154=) single nucleotide variant not specified [RCV000152571] Chr1:215675449 [GRCh38]
Chr1:215848791 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003453117]|Usher syndrome type 2A [RCV001835692]|not provided [RCV001850079]|not specified [RCV000152572] Chr1:215675553 [GRCh38]
Chr1:215848895 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10740+7G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003445575]|Usher syndrome type 2A [RCV003445574]|not provided [RCV001397657]|not specified [RCV000152581] Chr1:215782035 [GRCh38]
Chr1:215955377 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10656T>C (p.Ser3552=) single nucleotide variant not specified [RCV000152582] Chr1:215782126 [GRCh38]
Chr1:215955468 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453118]|Usher syndrome type 2A [RCV001831943]|not provided [RCV000838528]|not specified [RCV000152583] Chr1:215790179 [GRCh38]
Chr1:215963521 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys) single nucleotide variant Usher syndrome type 2A [RCV000671038]|not provided [RCV001307268]|not specified [RCV000152588] Chr1:215845886 [GRCh38]
Chr1:216019228 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8559-7G>A single nucleotide variant Usher syndrome type 2A [RCV001276967]|not provided [RCV000727256]|not specified [RCV000152593] Chr1:215877887 [GRCh38]
Chr1:216051229 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7303C>A (p.Pro2435Thr) single nucleotide variant not specified [RCV000152594] Chr1:215900903 [GRCh38]
Chr1:216074245 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003453122]|Usher syndrome type 2A [RCV000668752]|Usher syndrome type 2A [RCV003453121]|not provided [RCV000726833]|not specified [RCV000152596] Chr1:215965398 [GRCh38]
Chr1:216138740 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003453125]|Usher syndrome type 2A [RCV000673465]|Usher syndrome type 2A [RCV001271993]|not specified [RCV000152598] Chr1:215970708 [GRCh38]
Chr1:216144050 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6795_6797del (p.Glu2265_Tyr2266delinsAsp) deletion Rare genetic deafness [RCV000152599]|Retinal dystrophy [RCV001075161]|Retinitis pigmentosa 39 [RCV003453127]|Usher syndrome type 2A [RCV003453126]|not provided [RCV001242872] Chr1:215993028..215993030 [GRCh38]
Chr1:216166370..216166372 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003338428]|Retinitis pigmentosa [RCV000504879]|Usher syndrome [RCV001171525]|Usher syndrome type 2A [RCV000673612]|Usher syndrome type 2A [RCV001274249]|not provided [RCV001241475]|not specified [RCV000152600] Chr1:215993095 [GRCh38]
Chr1:216166437 [GRCh37]
Chr1:1q41
likely pathogenic|benign|uncertain significance
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003453129]|Usher syndrome type 2A [RCV000666186]|Usher syndrome type 2A [RCV001826816]|not specified [RCV000152603] Chr1:215999052 [GRCh38]
Chr1:216172394 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) single nucleotide variant Rare genetic deafness [RCV000152604]|Retinitis pigmentosa 39 [RCV001376394]|Usher syndrome type 2A [RCV003453130] Chr1:216000490 [GRCh38]
Chr1:216173832 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6087A>T (p.Ala2029=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453132]|Usher syndrome type 2A [RCV000670295]|Usher syndrome type 2A [RCV003453131]|not provided [RCV001417150]|not specified [RCV000152607] Chr1:216048610 [GRCh38]
Chr1:216221952 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5858-12A>G single nucleotide variant Usher syndrome type 2A [RCV000669695]|not provided [RCV002056017]|not specified [RCV000152609] Chr1:216070304 [GRCh38]
Chr1:216243646 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5254T>G (p.Leu1752Val) single nucleotide variant not specified [RCV000152610] Chr1:216083500 [GRCh38]
Chr1:216256842 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4668G>A (p.Leu1556=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453135]|Usher syndrome type 2A [RCV003453134]|not provided [RCV002056018]|not specified [RCV000152613] Chr1:216097173 [GRCh38]
Chr1:216270515 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4559T>A (p.Ile1520Asn) single nucleotide variant not specified [RCV000152614] Chr1:216175320 [GRCh38]
Chr1:216348662 [GRCh37]
Chr1:1q41
uncertain significance
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) duplication Rare genetic deafness [RCV000152615]|Retinal dystrophy [RCV001074086]|Retinitis pigmentosa 39 [RCV000984232]|Retinitis pigmentosa [RCV000505055]|Usher syndrome [RCV000710323]|Usher syndrome type 2A [RCV000984231]|Usher syndrome type 2A [RCV002498718]|not provided [RCV000412947] Chr1:216175368..216175369 [GRCh38]
Chr1:216348710..216348711 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) single nucleotide variant not provided [RCV000930617]|not specified [RCV000152617] Chr1:216198366 [GRCh38]
Chr1:216371708 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.4002G>A (p.Lys1334=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453137]|Usher syndrome type 2A [RCV003453136]|not provided [RCV002056019]|not specified [RCV000152618] Chr1:216198394 [GRCh38]
Chr1:216371736 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) single nucleotide variant Retinal dystrophy [RCV001075377]|Retinitis pigmentosa [RCV000295631]|Usher syndrome type 2A [RCV000389900]|not provided [RCV001207755]|not specified [RCV000152619] Chr1:216199637 [GRCh38]
Chr1:216372979 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003453139]|Usher syndrome type 2A [RCV000670960]|Usher syndrome type 2A [RCV003453138]|not provided [RCV000487610]|not specified [RCV000152623] Chr1:216199945 [GRCh38]
Chr1:216373287 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) single nucleotide variant Retinitis pigmentosa [RCV001097183]|Usher syndrome type 2A [RCV001097182]|not provided [RCV000918519]|not specified [RCV000152627] Chr1:216217405 [GRCh38]
Chr1:216390747 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453173]|Usher syndrome type 2A [RCV001831965]|Usher syndrome type 2A [RCV002505172]|not provided [RCV000965589]|not specified [RCV000155400] Chr1:215817108 [GRCh38]
Chr1:215990450 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453174]|Usher syndrome type 2A [RCV001835696]|not provided [RCV000965591]|not specified [RCV000155401] Chr1:215879003 [GRCh38]
Chr1:216052345 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.11048-15C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003445587]|Usher syndrome type 2A [RCV002478458]|Usher syndrome type 2A [RCV003445586]|not provided [RCV001513651]|not specified [RCV000155402] Chr1:215759858 [GRCh38]
Chr1:215933200 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003453175]|Usher syndrome type 2A [RCV001826838]|Usher syndrome type 2A [RCV002492586]|not provided [RCV000965590]|not specified [RCV000155403] Chr1:215878864 [GRCh38]
Chr1:216052206 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453176]|Usher syndrome type 2A [RCV001831966]|not provided [RCV000714158]|not specified [RCV000155404] Chr1:215675094 [GRCh38]
Chr1:215848436 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) single nucleotide variant not provided [RCV000724871]|not specified [RCV000155405] Chr1:215879007 [GRCh38]
Chr1:216052349 [GRCh37]
Chr1:1q41
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) single nucleotide variant Usher syndrome type 2A [RCV001449589]|not provided [RCV000954226]|not specified [RCV000155406] Chr1:216046499 [GRCh38]
Chr1:216219841 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003453177]|Usher syndrome type 2A [RCV001273045]|not provided [RCV000657074]|not specified [RCV000155407] Chr1:216070218 [GRCh38]
Chr1:216243560 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2880T>C (p.Asn960=) single nucleotide variant not provided [RCV000487969]|not specified [RCV000155408] Chr1:216232066 [GRCh38]
Chr1:216405408 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.2(USH2A):c.(?_785)_(1840_?)del deletion Rare genetic deafness [RCV000155413] Chr1:216292175..216327654 [GRCh38]
Chr1:216465517..216500996 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del deletion Rare genetic deafness [RCV000155414] Chr1:216292175..216292370 [GRCh38]
Chr1:216465517..216465712 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4252-36CTTT[5] microsatellite Retinitis Pigmentosa, Recessive [RCV000399208]|Retinitis pigmentosa 39 [RCV003445589]|Retinitis pigmentosa-deafness syndrome [RCV000304777]|Usher syndrome type 2A [RCV003445588]|not provided [RCV001519720]|not specified [RCV000155428] Chr1:216190380..216190383 [GRCh38]
Chr1:216363722..216363725 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala) single nucleotide variant Inborn genetic diseases [RCV002516130]|Retinitis pigmentosa 39 [RCV003453178]|Usher syndrome type 2A [RCV001826839]|not provided [RCV000897633]|not specified [RCV000155438] Chr1:216175336 [GRCh38]
Chr1:216348678 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.15374G>A (p.Arg5125His) single nucleotide variant Inborn genetic diseases [RCV002514937]|not provided [RCV000994242]|not specified [RCV000152562] Chr1:215628959 [GRCh38]
Chr1:215802301 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) single nucleotide variant Retinal dystrophy [RCV001074420]|Retinitis pigmentosa 39 [RCV000675140]|Retinitis pigmentosa [RCV000505125]|USH2A-related condition [RCV003390842]|Usher syndrome [RCV003226215]|Usher syndrome type 2A [RCV001004143]|not provided [RCV000480057]|not specified [RCV000152569] Chr1:215675336 [GRCh38]
Chr1:215848678 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) single nucleotide variant Retinal dystrophy [RCV001075370]|Retinitis pigmentosa [RCV000505138]|Usher syndrome [RCV000787993]|Usher syndrome type 2A [RCV000669865]|Usher syndrome type 2A [RCV001274933]|not provided [RCV000727077]|not specified [RCV000152570] Chr1:215675406 [GRCh38]
Chr1:215848748 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) single nucleotide variant not provided [RCV000884161]|not specified [RCV000152576] Chr1:215728050 [GRCh38]
Chr1:215901392 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val) single nucleotide variant Usher syndrome type 2A [RCV000673073]|not provided [RCV001244965]|not specified [RCV000152585] Chr1:215838055 [GRCh38]
Chr1:216011397 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9258+15T>C single nucleotide variant Retinitis pigmentosa 39 [RCV003445577]|Usher syndrome type 2A [RCV003445576]|not provided [RCV001513499]|not specified [RCV000152587] Chr1:215844279 [GRCh38]
Chr1:216017621 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453120]|Usher syndrome type 2A [RCV003453119]|not provided [RCV000756883]|not specified [RCV000152591] Chr1:215845942 [GRCh38]
Chr1:216019284 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453124]|Usher syndrome type 2A [RCV002478440]|Usher syndrome type 2A [RCV003453123]|not provided [RCV000918543]|not specified [RCV000152597] Chr1:215970658 [GRCh38]
Chr1:216144000 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003453128]|Usher syndrome type 2A [RCV001826814]|Usher syndrome type 2A [RCV002498717]|not provided [RCV000834972]|not specified [RCV000152601] Chr1:215998916 [GRCh38]
Chr1:216172258 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) single nucleotide variant Usher syndrome [RCV000504981]|Usher syndrome type 2A [RCV000669599]|Usher syndrome type 2A [RCV001826815]|not provided [RCV001240603]|not specified [RCV000152602] Chr1:215998954 [GRCh38]
Chr1:216172296 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) single nucleotide variant Retinitis pigmentosa [RCV001003269]|Usher syndrome [RCV001252668]|Usher syndrome type 2A [RCV000664998]|Usher syndrome type 2A [RCV001273039]|not provided [RCV000922822]|not specified [RCV000152606] Chr1:216046523 [GRCh38]
Chr1:216219865 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453133]|Usher syndrome type 2A [RCV000664977]|Usher syndrome type 2A [RCV001826817]|not provided [RCV000841270]|not specified [RCV000152608] Chr1:216072902 [GRCh38]
Chr1:216246244 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) single nucleotide variant Usher syndrome [RCV000710329]|Usher syndrome type 2A [RCV001276251]|not provided [RCV000724507]|not specified [RCV000152611] Chr1:216084826 [GRCh38]
Chr1:216258168 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) single nucleotide variant Retinitis pigmentosa [RCV000288419]|Usher syndrome type 2A [RCV000403072]|not provided [RCV000905750]|not specified [RCV000152620] Chr1:216199790 [GRCh38]
Chr1:216373132 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) single nucleotide variant Retinitis pigmentosa [RCV001100644]|Usher syndrome [RCV000504687]|Usher syndrome type 2A [RCV001100645]|not provided [RCV000894588]|not specified [RCV000152625] Chr1:216200043 [GRCh38]
Chr1:216373385 [GRCh37]
Chr1:1q41
likely pathogenic|benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) single nucleotide variant Usher syndrome type 2A [RCV000477797]|not provided [RCV001034259]|not specified [RCV000152628] Chr1:216217501 [GRCh38]
Chr1:216390843 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453140]|Retinitis pigmentosa [RCV001098934]|Usher syndrome type 2A [RCV000986543]|not provided [RCV000909410]|not specified [RCV000152629] Chr1:216246761 [GRCh38]
Chr1:216420103 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) single nucleotide variant Retinitis pigmentosa [RCV001100750]|Usher syndrome type 2A [RCV001100749]|not provided [RCV000881023]|not specified [RCV000152631] Chr1:216246884 [GRCh38]
Chr1:216420226 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) single nucleotide variant Retinitis pigmentosa [RCV001097357]|Usher syndrome type 2A [RCV001101111]|not provided [RCV000941463]|not specified [RCV000152632] Chr1:216321919 [GRCh38]
Chr1:216495261 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003453142]|Usher syndrome type 2A [RCV000668649]|Usher syndrome type 2A [RCV001831944]|not provided [RCV001723717]|not specified [RCV000152634] Chr1:216321945 [GRCh38]
Chr1:216495287 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) single nucleotide variant not provided [RCV000761708]|not specified [RCV000152635] Chr1:216321946 [GRCh38]
Chr1:216495288 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.486-13G>A single nucleotide variant Retinitis pigmentosa [RCV001097552]|Usher syndrome type 2A [RCV001097551]|not provided [RCV001520496]|not specified [RCV000152636] Chr1:216418692 [GRCh38]
Chr1:216592034 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) single nucleotide variant Retinal dystrophy [RCV001073548]|Usher syndrome [RCV002250425]|Usher syndrome type 2A [RCV000671700]|not provided [RCV001850131]|not specified [RCV000155713] Chr1:215674103 [GRCh38]
Chr1:215847445 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6958-10A>G single nucleotide variant not provided [RCV000154110] Chr1:215965489 [GRCh38]
Chr1:216138831 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) single nucleotide variant Retinal dystrophy [RCV001073314]|Retinitis pigmentosa 39 [RCV000191140]|Retinitis pigmentosa [RCV000504652]|USH2A-related condition [RCV003401045]|Usher syndrome type 2A [RCV000765068]|Usher syndrome type 2A [RCV001002722]|not provided [RCV000359124]|not specified [RCV003155115] Chr1:215993155 [GRCh38]
Chr1:216166497 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) single nucleotide variant Retinal dystrophy [RCV001073310]|Retinitis pigmentosa 39 [RCV000191142]|Retinitis pigmentosa [RCV000504830]|Usher syndrome [RCV001804928]|Usher syndrome type 2A [RCV000675180]|Usher syndrome type 2A [RCV001002723]|not provided [RCV000484923] Chr1:215786715 [GRCh38]
Chr1:215960057 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) deletion Retinal dystrophy [RCV001073486]|Retinitis pigmentosa 39 [RCV000984319]|Usher syndrome [RCV000594585]|Usher syndrome type 2A [RCV000984318]|not provided [RCV000254923] Chr1:216207401..216207402 [GRCh38]
Chr1:216380743..216380744 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1214del (p.Asn405fs) deletion Retinal dystrophy [RCV001075757]|Retinitis pigmentosa 39 [RCV003454428]|Usher syndrome type 2A [RCV000169682]|Usher syndrome type 2A [RCV000664558]|not provided [RCV001039128] Chr1:216324282 [GRCh38]
Chr1:216497624 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=) single nucleotide variant not provided [RCV000178450] Chr1:215900142 [GRCh38]
Chr1:216073484 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=) single nucleotide variant not provided [RCV000178476] Chr1:215888633 [GRCh38]
Chr1:216061975 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) single nucleotide variant Hearing impairment [RCV001375436]|Retinitis pigmentosa 39 [RCV003454463]|Usher syndrome type 2A [RCV003454462]|not provided [RCV000178559] Chr1:215867122 [GRCh38]
Chr1:216040464 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) single nucleotide variant Usher syndrome [RCV003389461]|Usher syndrome type 2A [RCV001835708]|not provided [RCV000178642] Chr1:215838076 [GRCh38]
Chr1:216011418 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) single nucleotide variant not provided [RCV000724828]|not specified [RCV000178681] Chr1:215817166 [GRCh38]
Chr1:215990508 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) single nucleotide variant Usher syndrome type 2A [RCV001276949]|not provided [RCV000179116]|not specified [RCV000825849] Chr1:215786716 [GRCh38]
Chr1:215960058 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=) single nucleotide variant not provided [RCV000179199] Chr1:215759767 [GRCh38]
Chr1:215933109 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13078A>G (p.Ser4360Gly) single nucleotide variant not provided [RCV000179625] Chr1:215674833 [GRCh38]
Chr1:215848175 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) single nucleotide variant Retinal dystrophy [RCV001073767]|Usher syndrome type 2A [RCV001449650]|not provided [RCV000879539]|not specified [RCV000216357] Chr1:215674433 [GRCh38]
Chr1:215847775 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003454466]|Usher syndrome type 2A [RCV003454465]|not provided [RCV000179628] Chr1:215674661 [GRCh38]
Chr1:215848003 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003454468]|Usher syndrome type 2A [RCV003454467]|not provided [RCV000179629] Chr1:215674914 [GRCh38]
Chr1:215848256 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) single nucleotide variant Usher syndrome [RCV000710342]|Usher syndrome type 2A [RCV000665441]|Usher syndrome type 2A [RCV001276150]|not provided [RCV000724765]|not specified [RCV000215244] Chr1:215648691 [GRCh38]
Chr1:215822033 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) single nucleotide variant Usher syndrome type 2A [RCV001273049]|not provided [RCV000176700] Chr1:216083489 [GRCh38]
Chr1:216256831 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1510C>A (p.His504Asn) single nucleotide variant Inborn genetic diseases [RCV003372637]|Retinitis pigmentosa 39 [RCV003454471]|Usher syndrome type 2A [RCV003454470]|not provided [RCV000180394] Chr1:216323514 [GRCh38]
Chr1:216496856 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1412A>G (p.Tyr471Cys) single nucleotide variant not provided [RCV000180395] Chr1:216323612 [GRCh38]
Chr1:216496954 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4882A>T (p.Thr1628Ser) single nucleotide variant not provided [RCV000176438] Chr1:216089016 [GRCh38]
Chr1:216262358 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) single nucleotide variant Usher syndrome type 2A [RCV001273051]|not provided [RCV000176439]|not specified [RCV001000728] Chr1:216089102 [GRCh38]
Chr1:216262444 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4627+813C>T single nucleotide variant Retinitis pigmentosa [RCV000260365]|Usher syndrome type 2A [RCV000355201] Chr1:216174439 [GRCh38]
Chr1:216347781 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
NM_206933.4(USH2A):c.9827C>G (p.Ser3276Ter) single nucleotide variant Usher syndrome type 2A [RCV000200078]|not provided [RCV001388624] Chr1:215799038 [GRCh38]
Chr1:215972380 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.486-15C>T single nucleotide variant Retinitis pigmentosa [RCV000292417]|Usher syndrome type 2A [RCV000389034]|not provided [RCV001520242]|not specified [RCV000606338] Chr1:216418694 [GRCh38]
Chr1:216592036 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=) single nucleotide variant Retinitis pigmentosa [RCV000353037]|Usher syndrome type 2A [RCV000298283]|not provided [RCV002059427] Chr1:216200096 [GRCh38]
Chr1:216373438 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.849-4A>G single nucleotide variant Retinitis pigmentosa [RCV000358742]|Usher syndrome type 2A [RCV000261571]|not provided [RCV001443214] Chr1:216325603 [GRCh38]
Chr1:216498945 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3317-14del deletion Retinitis Pigmentosa, Recessive [RCV000273734]|Retinitis pigmentosa-deafness syndrome [RCV000368196]|not provided [RCV001513418] Chr1:216200135 [GRCh38]
Chr1:216373477 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_206933.4(USH2A):c.1679del (p.Pro560fs) deletion Retinal dystrophy [RCV001073636]|Retinitis pigmentosa 39 [RCV000668895]|Usher syndrome type 2A [RCV001828224]|Usher syndrome type 2A [RCV002502133]|not provided [RCV000414082] Chr1:216292336 [GRCh38]
Chr1:216465678 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.908G>A (p.Arg303His) single nucleotide variant Hearing impairment [RCV000754554]|Retinal dystrophy [RCV001074790]|Retinitis pigmentosa 39 [RCV000666542]|Usher syndrome [RCV002229842]|Usher syndrome type 2A [RCV001828199]|not provided [RCV000276147] Chr1:216325540 [GRCh38]
Chr1:216498882 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) single nucleotide variant Retinitis pigmentosa [RCV000332273]|Usher syndrome type 2A [RCV000277125]|not provided [RCV000908710] Chr1:216200118 [GRCh38]
Chr1:216373460 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.126C>T (p.Asn42=) single nucleotide variant Retinitis pigmentosa [RCV000285688]|Usher syndrome type 2A [RCV000402756]|not provided [RCV001430541] Chr1:216422211 [GRCh38]
Chr1:216595553 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) single nucleotide variant Retinitis pigmentosa [RCV000375855]|Usher syndrome type 2A [RCV000278735]|not provided [RCV001172230] Chr1:216323485 [GRCh38]
Chr1:216496827 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.3157+12C>T single nucleotide variant Retinitis pigmentosa [RCV000288109]|Usher syndrome type 2A [RCV000326688]|not provided [RCV001509796] Chr1:216217375 [GRCh38]
Chr1:216390717 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) single nucleotide variant Retinitis pigmentosa [RCV000265612]|Usher syndrome type 2A [RCV000378867]|not provided [RCV000840094] Chr1:216175434 [GRCh38]
Chr1:216348776 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr) single nucleotide variant Retinitis pigmentosa [RCV000280684]|Usher syndrome type 2A [RCV000335820]|not provided [RCV001470224] Chr1:216175467 [GRCh38]
Chr1:216348809 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser) single nucleotide variant Retinitis pigmentosa [RCV000338094]|Usher syndrome type 2A [RCV000280896] Chr1:216247115 [GRCh38]
Chr1:216420457 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003449023]|Retinitis pigmentosa [RCV000301640]|Usher syndrome type 2A [RCV000268524]|not provided [RCV002519490] Chr1:216325498 [GRCh38]
Chr1:216498840 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15520-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003463769]|Usher syndrome type 2A [RCV001828242]|not provided [RCV000281832]|not specified [RCV001000794] Chr1:215625871 [GRCh38]
Chr1:215799213 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) single nucleotide variant Inborn genetic diseases [RCV002519489]|Retinitis pigmentosa 39 [RCV003449021]|Retinitis pigmentosa [RCV000367983]|Usher syndrome type 2A [RCV000271063]|not provided [RCV001247067] Chr1:216289348 [GRCh38]
Chr1:216462690 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter) single nucleotide variant Retinal dystrophy [RCV001074717]|Retinitis pigmentosa 39 [RCV003454778]|Usher syndrome type 2A [RCV001271235]|not provided [RCV000255405] Chr1:216247090 [GRCh38]
Chr1:216420432 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2167+11C>T single nucleotide variant Retinitis pigmentosa [RCV001101010]|Usher syndrome type 2A [RCV001101009]|not provided [RCV001468097]|not specified [RCV000221775] Chr1:216250892 [GRCh38]
Chr1:216424234 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5373G>C (p.Leu1791=) single nucleotide variant not specified [RCV000223535] Chr1:216078288 [GRCh38]
Chr1:216251630 [GRCh37]
Chr1:1q41
likely benign
NM_206933.2:c.6326-3582_6658-1028del deletion Usher syndrome type 2A [RCV000210307] Chr1:1q41 likely pathogenic
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) single nucleotide variant Inborn genetic diseases [RCV002517521]|Usher syndrome type 2A [RCV000666814]|Usher syndrome type 2A [RCV001271980]|not provided [RCV001812236]|not specified [RCV000217075] Chr1:215900175 [GRCh38]
Chr1:216073517 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6639del (p.Lys2213fs) deletion Rare genetic deafness [RCV000217100] Chr1:215998905 [GRCh38]
Chr1:216172247 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003454566]|Usher syndrome type 2A [RCV001828058]|not provided [RCV000842299]|not specified [RCV000217122] Chr1:216046520 [GRCh38]
Chr1:216219862 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3158-7A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003445707]|Usher syndrome type 2A [RCV003445706]|not provided [RCV000923215]|not specified [RCV000219645] Chr1:216207438 [GRCh38]
Chr1:216380780 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003454602]|Usher syndrome type 2A [RCV001833218]|not provided [RCV001857754]|not specified [RCV000221966] Chr1:215675351 [GRCh38]
Chr1:215848693 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8681+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV000673469]|Usher syndrome [RCV000222048]|Usher syndrome [RCV003226253]|Usher syndrome type 2A [RCV003445710] Chr1:215877757 [GRCh38]
Chr1:216051099 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8499T>C (p.Ser2833=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454592]|Usher syndrome type 2A [RCV000667785]|Usher syndrome type 2A [RCV003454591]|not provided [RCV001491109]|not specified [RCV000222061] Chr1:215878823 [GRCh38]
Chr1:216052165 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10344A>G (p.Glu3448=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454571]|Usher syndrome type 2A [RCV000672719]|Usher syndrome type 2A [RCV003454570]|not provided [RCV000979364]|not specified [RCV000217243] Chr1:215786713 [GRCh38]
Chr1:215960055 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) single nucleotide variant Retinal dystrophy [RCV001074937]|Retinitis pigmentosa 39 [RCV003454603]|Usher syndrome type 2A [RCV001833219]|Usher syndrome type 2A [RCV002485408]|not provided [RCV001853496]|not specified [RCV000217262] Chr1:215674179 [GRCh38]
Chr1:215847521 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6513G>C (p.Gly2171=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454588]|Usher syndrome type 2A [RCV000669665]|Usher syndrome type 2A [RCV003454587]|not provided [RCV002057161]|not specified [RCV000213176] Chr1:215999031 [GRCh38]
Chr1:216172373 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) single nucleotide variant Rare genetic deafness [RCV000213203]|Retinal dystrophy [RCV001074876]|Retinitis pigmentosa 39 [RCV003454598]|Usher syndrome type 2 [RCV001003287]|Usher syndrome type 2A [RCV000668930]|Usher syndrome type 2A [RCV001273812]|not provided [RCV000822071] Chr1:216325448 [GRCh38]
Chr1:216498790 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8845+9G>C single nucleotide variant not specified [RCV000217468] Chr1:215866998 [GRCh38]
Chr1:216040340 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9402G>A (p.Arg3134=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454594]|Usher syndrome type 2A [RCV003454593]|not provided [RCV001445881]|not specified [RCV000222287] Chr1:215817165 [GRCh38]
Chr1:215990507 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) single nucleotide variant Retinal dystrophy [RCV001074362]|Retinitis pigmentosa 39 [RCV003462402]|Retinitis pigmentosa [RCV000504751]|USH2A-related condition [RCV003401133]|Usher syndrome type 2A [RCV001810438]|not provided [RCV001241460]|not specified [RCV000213372] Chr1:215680298 [GRCh38]
Chr1:215853640 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454561]|Usher syndrome type 2A [RCV003454560]|not provided [RCV000943551]|not specified [RCV000213380] Chr1:215674777 [GRCh38]
Chr1:215848119 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) single nucleotide variant Inborn genetic diseases [RCV002518226]|Retinitis pigmentosa 39 [RCV003454600]|Usher syndrome [RCV001270140]|Usher syndrome type 2A [RCV001833217]|not specified [RCV000213445] Chr1:215790066 [GRCh38]
Chr1:215963408 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) single nucleotide variant not provided [RCV001318894]|not specified [RCV000217475] Chr1:215741484 [GRCh38]
Chr1:215914826 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5776+1G>A single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257907]|Rare genetic deafness [RCV000213465]|Retinal dystrophy [RCV001074367]|Retinitis pigmentosa 39 [RCV001542730]|Retinitis pigmentosa [RCV001723796]|Usher syndrome [RCV001375185]|Usher syndrome type 2 [RCV001003271]|Usher syndrome type 2A [RCV001002706]|Usher syndrome type 2A [RCV002500705]|not provided [RCV000255459] Chr1:216073096 [GRCh38]
Chr1:216246438 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7038C>T (p.His2346=) single nucleotide variant Usher syndrome type 2A [RCV001274245]|not provided [RCV000725927]|not specified [RCV000213559] Chr1:215965399 [GRCh38]
Chr1:216138741 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) single nucleotide variant Usher syndrome type 2A [RCV001274936]|not provided [RCV000756891]|not specified [RCV000217686] Chr1:215680202 [GRCh38]
Chr1:215853544 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9570+1G>A single nucleotide variant Rare genetic deafness [RCV000217703]|Retinal dystrophy [RCV001073320]|Retinitis pigmentosa 39 [RCV000666079]|Usher syndrome type 2A [RCV001808577]|not provided [RCV000808044] Chr1:215816996 [GRCh38]
Chr1:215990338 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) single nucleotide variant Usher syndrome type 2A [RCV000763829]|Usher syndrome type 2A [RCV001274951]|not provided [RCV001453428]|not specified [RCV000217733] Chr1:215782759 [GRCh38]
Chr1:215956101 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) single nucleotide variant Rare genetic deafness [RCV000213731]|Retinal dystrophy [RCV001075409]|Retinitis pigmentosa 39 [RCV000666615]|Usher syndrome type 2A [RCV001273711]|not provided [RCV001091129] Chr1:215867112 [GRCh38]
Chr1:216040454 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.15105A>C (p.Thr5035=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454580]|Usher syndrome type 2A [RCV000670403]|Usher syndrome type 2A [RCV003454579]|not provided [RCV000944210]|not specified [RCV000217869] Chr1:215634651 [GRCh38]
Chr1:215807993 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) single nucleotide variant Usher syndrome type 2A [RCV001273038]|not provided [RCV000724908]|not specified [RCV000220285] Chr1:216000524 [GRCh38]
Chr1:216173866 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.870T>A (p.Ser290=) single nucleotide variant not specified [RCV000213794] Chr1:216325578 [GRCh38]
Chr1:216498920 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.785-16_785-15del deletion Retinitis pigmentosa 39 [RCV003445696]|Usher syndrome type 2A [RCV003445695]|not provided [RCV001520245]|not specified [RCV000213860] Chr1:216327669..216327670 [GRCh38]
Chr1:216501011..216501012 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14511C>T (p.Ile4837=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454578]|Usher syndrome type 2A [RCV000665034]|Usher syndrome type 2A [RCV003454577]|not provided [RCV000912131]|not specified [RCV000215547] Chr1:215648599 [GRCh38]
Chr1:215821941 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) single nucleotide variant Usher syndrome type 2A [RCV001272948]|not provided [RCV000726657]|not specified [RCV000215653] Chr1:215675088 [GRCh38]
Chr1:215848430 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003454609]|Usher syndrome type 2A [RCV000673847]|Usher syndrome type 2A [RCV003454608]|not provided [RCV002518230]|not specified [RCV000220353] Chr1:215844463 [GRCh38]
Chr1:216017805 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13857A>G (p.Ser4619=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454563]|Usher syndrome type 2A [RCV003454562]|not provided [RCV000915582]|not specified [RCV000220399] Chr1:215671248 [GRCh38]
Chr1:215844590 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003454606]|Usher syndrome type 2A [RCV001833220]|not provided [RCV002518228]|not specified [RCV000220417] Chr1:216365031 [GRCh38]
Chr1:216538373 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.486-1G>C single nucleotide variant Rare genetic deafness [RCV000220465]|Retinitis pigmentosa 39 [RCV000667749]|Retinitis pigmentosa [RCV001097549]|Usher syndrome type 2A [RCV001097550]|not provided [RCV000578546] Chr1:216418680 [GRCh38]
Chr1:216592022 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12697_12698del (p.Trp4233fs) deletion Retinal dystrophy [RCV001074341]|Retinitis pigmentosa 39 [RCV003453302]|Usher syndrome type 2A [RCV000670406]|Usher syndrome type 2A [RCV003453301]|not provided [RCV001389896] Chr1:215675213..215675214 [GRCh38]
Chr1:215848555..215848556 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454574]|Usher syndrome type 2A [RCV001833186]|not provided [RCV000903702]|not specified [RCV000213978] Chr1:215782805 [GRCh38]
Chr1:215956147 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.9956C>T (p.Pro3319Leu) single nucleotide variant not specified [RCV000214018] Chr1:215798909 [GRCh38]
Chr1:215972251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) single nucleotide variant Usher syndrome type 2A [RCV001276961]|not provided [RCV000766324]|not specified [RCV000218151] Chr1:215844442 [GRCh38]
Chr1:216017784 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6765C>T (p.Asp2255=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454590]|Usher syndrome type 2A [RCV003454589]|not provided [RCV000940807]|not specified [RCV000220519] Chr1:215993060 [GRCh38]
Chr1:216166402 [GRCh37]
Chr1:1q41
likely benign
NM_206933.2(USH2A):c.(?_7301)_(8223_?)del deletion Rare genetic deafness [RCV000220563] Chr1:215888426..215900905 [GRCh38]
Chr1:216061768..216074247 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10596_10597insAT (p.Tyr3533fs) insertion Usher syndrome type 2A [RCV000670017] Chr1:215782185..215782186 [GRCh38]
Chr1:215955527..215955528 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454565]|Usher syndrome type 2A [RCV003454564]|not provided [RCV000906976]|not specified [RCV000214074] Chr1:216046570 [GRCh38]
Chr1:216219912 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11815dup (p.Glu3939fs) duplication Usher syndrome type 2A [RCV000669187] Chr1:215728280..215728281 [GRCh38]
Chr1:215901622..215901623 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7595-1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446308]|Usher syndrome type 2A [RCV000669247]|Usher syndrome type 2A [RCV003446307]|not provided [RCV002532085] Chr1:215889055 [GRCh38]
Chr1:216062397 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3317-1G>A single nucleotide variant Usher syndrome type 2A [RCV000669263] Chr1:216200122 [GRCh38]
Chr1:216373464 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4082-2A>G single nucleotide variant Usher syndrome type 2A [RCV000669313] Chr1:216196724 [GRCh38]
Chr1:216370066 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8845+6_8845+9del microsatellite Retinitis pigmentosa 39 [RCV003445714]|Usher syndrome type 2A [RCV001276964]|not provided [RCV001239051]|not specified [RCV000216065] Chr1:215866998..215867001 [GRCh38]
Chr1:216040340..216040343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10398C>G (p.Leu3466=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454573]|Usher syndrome type 2A [RCV003454572]|not provided [RCV000898437]|not specified [RCV000220912] Chr1:215782925 [GRCh38]
Chr1:215956267 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003453307]|Usher syndrome type 2A [RCV000670610]|Usher syndrome type 2A [RCV003453306]|not specified [RCV003330889] Chr1:216046431 [GRCh38]
Chr1:216219773 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.485+3A>T single nucleotide variant Usher syndrome type 2A [RCV000515714] Chr1:216421849 [GRCh38]
Chr1:216595191 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1623G>A (p.Glu541=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454582]|Usher syndrome type 2A [RCV000664772]|Usher syndrome type 2A [RCV003454581]|not provided [RCV000919466]|not specified [RCV000214430] Chr1:216321904 [GRCh38]
Chr1:216495246 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6805+6T>A single nucleotide variant not specified [RCV000216139] Chr1:215993014 [GRCh38]
Chr1:216166356 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV001376499]|Retinitis pigmentosa [RCV001723791]|Usher syndrome [RCV001004786]|Usher syndrome type 1 [RCV000216234]|Usher syndrome type 2A [RCV000675100]|Usher syndrome type 2A [RCV001833176]|not provided [RCV001056911] Chr1:215798944 [GRCh38]
Chr1:215972286 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) single nucleotide variant Usher syndrome type 2A [RCV000668291]|not provided [RCV001034435]|not specified [RCV000218549] Chr1:215640624 [GRCh38]
Chr1:215813966 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5130C>T (p.Pro1710=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454586]|Usher syndrome type 2A [RCV003454585]|not provided [RCV000942681]|not specified [RCV000218578] Chr1:216084735 [GRCh38]
Chr1:216258077 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) single nucleotide variant Retinal dystrophy [RCV001075000]|Retinitis pigmentosa 39 [RCV003454601]|Usher syndrome type 2A [RCV001274942]|not provided [RCV001047373]|not specified [RCV000221034] Chr1:215758618 [GRCh38]
Chr1:215931960 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003454604]|Usher syndrome type 2A [RCV000664705]|Usher syndrome type 2A [RCV001276139]|not specified [RCV000222806] Chr1:215629011 [GRCh38]
Chr1:215802353 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6648C>T (p.Ile2216=) single nucleotide variant not provided [RCV001493751] Chr1:215998896 [GRCh38]
Chr1:216172238 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4313G>A (p.Arg1438Lys) single nucleotide variant not provided [RCV001368743]|not specified [RCV000216384] Chr1:216190306 [GRCh38]
Chr1:216363648 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13775A>G (p.Gln4592Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003454576]|Usher syndrome type 2A [RCV003454575]|not provided [RCV001034424]|not specified [RCV000221146] Chr1:215674136 [GRCh38]
Chr1:215847478 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9259-14A>C single nucleotide variant Retinitis pigmentosa 39 [RCV003445698]|Usher syndrome type 2A [RCV003445697]|not provided [RCV001509798]|not specified [RCV000221196] Chr1:215838117 [GRCh38]
Chr1:216011459 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003459614]|Usher syndrome type 2A [RCV000670287]|Usher syndrome type 2A [RCV001829863]|not provided [RCV001300493] Chr1:216323627 [GRCh38]
Chr1:216496969 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003453300]|Usher syndrome type 2A [RCV000670318]|Usher syndrome type 2A [RCV003453299]|not provided [RCV002281123] Chr1:215934760 [GRCh38]
Chr1:216108102 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2775T>C (p.Asn925=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454584]|Usher syndrome type 2A [RCV000668845]|Usher syndrome type 2A [RCV003454583]|not provided [RCV001421319]|not specified [RCV000214660] Chr1:216246619 [GRCh38]
Chr1:216419961 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV001376369]|Usher syndrome [RCV000221320] Chr1:215675211 [GRCh38]
Chr1:215848553 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance|no classifications from unflagged records
NM_206933.4(USH2A):c.1550+10T>C single nucleotide variant Retinitis pigmentosa 39 [RCV003445705]|Usher syndrome type 2A [RCV000664515]|Usher syndrome type 2A [RCV003445704]|not provided [RCV001499328]|not specified [RCV000221378] Chr1:216323464 [GRCh38]
Chr1:216496806 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7121-14del deletion Retinitis pigmentosa 39 [RCV003445694]|Usher syndrome type 2A [RCV003445693]|not provided [RCV002057099]|not specified [RCV000221414] Chr1:215934809 [GRCh38]
Chr1:216108151 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4321G>T (p.Glu1441Ter) single nucleotide variant Retinal dystrophy [RCV000210293] Chr1:216190298 [GRCh38]
Chr1:216363640 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) indel Retinal dystrophy [RCV001073289]|Retinitis pigmentosa 39 [RCV002272177]|USH2A-Related Disorders [RCV001824687]|Usher syndrome type 2A [RCV000210302]|not provided [RCV001386897] Chr1:216073259 [GRCh38]
Chr1:216246601 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|not provided
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) single nucleotide variant Retinal dystrophy [RCV000225553]|Retinitis pigmentosa [RCV000505157]|Usher syndrome [RCV001171538]|Usher syndrome type 2A [RCV000210323] Chr1:216000442 [GRCh38]
Chr1:216173784 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001542731]|Usher syndrome type 2A [RCV000210331]|not provided [RCV002515580] Chr1:216175405 [GRCh38]
Chr1:216348747 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6325+13G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003445709]|Usher syndrome type 2A [RCV003445708]|not provided [RCV001487638]|not specified [RCV000216609] Chr1:216046418 [GRCh38]
Chr1:216219760 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) single nucleotide variant Usher syndrome type 2A [RCV000763827]|Usher syndrome type 2A [RCV001272936]|not provided [RCV001422550]|not specified [RCV000221554] Chr1:215650744 [GRCh38]
Chr1:215824086 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3942A>G (p.Glu1314=) single nucleotide variant not specified [RCV000223302] Chr1:216198454 [GRCh38]
Chr1:216371796 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) single nucleotide variant Retinal dystrophy [RCV001073802]|Retinitis pigmentosa 39 [RCV000678659]|Retinitis pigmentosa [RCV001724125]|Usher syndrome [RCV003389477]|Usher syndrome type 2A [RCV000668871]|Usher syndrome type 2A [RCV000986527]|not provided [RCV001209780] Chr1:215799050 [GRCh38]
Chr1:215972392 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.11734dup (p.Glu3912fs) duplication Usher syndrome type 2A [RCV000669706] Chr1:215728361..215728362 [GRCh38]
Chr1:215901703..215901704 [GRCh37]
Chr1:1q41
likely pathogenic
Single allele deletion Loeys-Dietz syndrome 4 [RCV000210452] Chr1:215588712..222145072 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter) single nucleotide variant Rare genetic deafness [RCV000216826] Chr1:215674200 [GRCh38]
Chr1:215847542 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val) single nucleotide variant USH2A-related condition [RCV003401127]|Usher syndrome type 2A [RCV000667038]|Usher syndrome type 2A [RCV001271995]|not provided [RCV001495426]|not specified [RCV000216840] Chr1:215998979 [GRCh38]
Chr1:216172321 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003454607]|Usher syndrome type 2A [RCV000668063]|Usher syndrome type 2A [RCV001833221]|not provided [RCV002518229]|not specified [RCV000223346] Chr1:215900770 [GRCh38]
Chr1:216074112 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2479A>C (p.Asn827His) single nucleotide variant Retinitis pigmentosa 39 [RCV003454605]|Usher syndrome type 2A [RCV000674556]|Usher syndrome type 2A [RCV001835733]|not provided [RCV002518227]|not specified [RCV000215197] Chr1:216246915 [GRCh38]
Chr1:216420257 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2007T>A (p.Ser669=) single nucleotide variant not specified [RCV000219423] Chr1:216251063 [GRCh38]
Chr1:216424405 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1558del (p.Cys520fs) deletion Retinal dystrophy [RCV000225369]|Retinitis pigmentosa 39 [RCV003454685]|Usher syndrome type 2A [RCV000671733]|Usher syndrome type 2A [RCV003454684]|not provided [RCV001058681] Chr1:216321969 [GRCh38]
Chr1:216495311 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11549-1G>A single nucleotide variant Retinal dystrophy [RCV000225372]|Retinitis pigmentosa 39 [RCV003445715]|Usher syndrome type 2A [RCV000675178]|Usher syndrome type 2A [RCV001197049]|not provided [RCV001383731] Chr1:215741538 [GRCh38]
Chr1:215914880 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2661C>G (p.Tyr887Ter) single nucleotide variant Retinal dystrophy [RCV000225384] Chr1:216246733 [GRCh38]
Chr1:216420075 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) single nucleotide variant Retinal dystrophy [RCV000225445]|Usher syndrome [RCV003389466]|Usher syndrome type 2A [RCV003454686]|not provided [RCV001383883] Chr1:215782170 [GRCh38]
Chr1:215955512 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4251+1G>A single nucleotide variant Retinal dystrophy [RCV000225482] Chr1:216196552 [GRCh38]
Chr1:216369894 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6326-1G>A single nucleotide variant Retinal dystrophy [RCV000225527] Chr1:216000563 [GRCh38]
Chr1:216173905 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr) single nucleotide variant Retinal dystrophy [RCV000225564] Chr1:216048593 [GRCh38]
Chr1:216221935 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) single nucleotide variant Retinal dystrophy [RCV000225593]|Retinitis pigmentosa 39 [RCV003454683]|Usher syndrome type 2A [RCV000669040]|Usher syndrome type 2A [RCV001828103]|not provided [RCV001237137] Chr1:215674470 [GRCh38]
Chr1:215847812 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) single nucleotide variant Retinal dystrophy [RCV000225467]|not provided [RCV001240530] Chr1:215766732 [GRCh38]
Chr1:215940074 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) single nucleotide variant Retinal dystrophy [RCV000225477]|Retinitis pigmentosa 39 [RCV003469118]|Retinitis pigmentosa [RCV003324522]|USH2A-related condition [RCV003390978]|Usher syndrome [RCV001252669]|Usher syndrome type 2A [RCV000675144]|Usher syndrome type 2A [RCV003137832]|not provided [RCV000482491] Chr1:215728383 [GRCh38]
Chr1:215901725 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14350G>T (p.Glu4784Ter) single nucleotide variant Retinal dystrophy [RCV000225551]|not provided [RCV002519765] Chr1:215648760 [GRCh38]
Chr1:215822102 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3327C>A (p.Tyr1109Ter) single nucleotide variant Retinal dystrophy [RCV000225579]|not provided [RCV001270138] Chr1:216200111 [GRCh38]
Chr1:216373453 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) single nucleotide variant Retinal dystrophy [RCV000225627]|Retinitis pigmentosa 39 [RCV003469119]|Retinitis pigmentosa [RCV000504766]|Usher syndrome type 2A [RCV000669603]|Usher syndrome type 2A [RCV001833242]|not provided [RCV000281204] Chr1:216048579 [GRCh38]
Chr1:216221921 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) single nucleotide variant Retinal dystrophy [RCV000225632]|not provided [RCV002516256] Chr1:215680348 [GRCh38]
Chr1:215853690 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.6470del (p.Arg2157fs) deletion Retinal dystrophy [RCV000225641] Chr1:216000418 [GRCh38]
Chr1:216173760 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3158-2A>G single nucleotide variant Retinal dystrophy [RCV000225664]|Usher syndrome type 2A [RCV001002690] Chr1:216207433 [GRCh38]
Chr1:216380775 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) single nucleotide variant Retinal dystrophy [RCV000225689]|Usher syndrome type 2A [RCV001833241]|Usher syndrome type 2A [RCV002487041]|not provided [RCV001300492] Chr1:216250931 [GRCh38]
Chr1:216424273 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.9685del (p.Glu3229fs) deletion Nonsyndromic genetic hearing loss [RCV000225050]|Usher syndrome type 2A [RCV001727643] Chr1:215813790 [GRCh38]
Chr1:215987132 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.651+15A>G single nucleotide variant Retinitis pigmentosa [RCV000371651]|Usher syndrome type 2A [RCV000319101] Chr1:216418499 [GRCh38]
Chr1:216591841 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003449020]|Retinitis pigmentosa [RCV000356225]|Usher syndrome type 2A [RCV000320048]|Usher syndrome type 2A [RCV002487308]|not provided [RCV001038154] Chr1:216198512 [GRCh38]
Chr1:216371854 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp) single nucleotide variant Retinitis pigmentosa [RCV000395845]|Usher syndrome type 2A [RCV000348183] Chr1:216324169 [GRCh38]
Chr1:216497511 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449022]|Retinitis pigmentosa [RCV000362396]|Usher syndrome type 2A [RCV000309964]|not provided [RCV001850524] Chr1:216289351 [GRCh38]
Chr1:216462693 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4988-5T>G single nucleotide variant not provided [RCV001368013] Chr1:216084882 [GRCh38]
Chr1:216258224 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp) single nucleotide variant Usher syndrome type 2A [RCV001273710]|not provided [RCV000756887] Chr1:215867074 [GRCh38]
Chr1:216040416 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003453540]|Usher syndrome type 2A [RCV001272943]|not provided [RCV000756888] Chr1:215674547 [GRCh38]
Chr1:215847889 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4680A>C (p.Ala1560=) single nucleotide variant not specified [RCV000756889] Chr1:216097161 [GRCh38]
Chr1:216270503 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003453541]|Usher syndrome type 2A [RCV001271996]|not provided [RCV000756890] Chr1:216000457 [GRCh38]
Chr1:216173799 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6462G>A (p.Leu2154=) single nucleotide variant not provided [RCV000756892] Chr1:216000426 [GRCh38]
Chr1:216173768 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5698T>C (p.Cys1900Arg) single nucleotide variant not provided [RCV000756893] Chr1:216073175 [GRCh38]
Chr1:216246517 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12122T>C (p.Ile4041Thr) single nucleotide variant not provided [RCV000756894] Chr1:215680321 [GRCh38]
Chr1:215853663 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10388-2A>G single nucleotide variant Retinal dystrophy [RCV001073509]|Retinitis pigmentosa 39 [RCV003446314]|Usher syndrome type 2A [RCV000670401]|Usher syndrome type 2A [RCV001830446]|not provided [RCV001212598] Chr1:215782937 [GRCh38]
Chr1:215956279 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=) single nucleotide variant Retinitis pigmentosa [RCV000328804]|Usher syndrome type 2A [RCV000383428]|not provided [RCV001495406] Chr1:216207412 [GRCh38]
Chr1:216380754 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.2(USH2A):c.9335_9371+8063del deletion Rare genetic deafness [RCV000612595] Chr1:215829927..215838026 [GRCh38]
Chr1:216003269..216011368 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15250A>G (p.Lys5084Glu) single nucleotide variant not provided [RCV001367723] Chr1:215634506 [GRCh38]
Chr1:215807848 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val) single nucleotide variant Retinitis pigmentosa 39 [RCV000625628] Chr1:215674892 [GRCh38]
Chr1:215848234 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) single nucleotide variant Retinitis pigmentosa [RCV000339482]|Usher syndrome type 2A [RCV000405347]|not provided [RCV000371237] Chr1:216246935 [GRCh38]
Chr1:216420277 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly) single nucleotide variant Retinitis pigmentosa [RCV000309704]|Usher syndrome type 2A [RCV000406461] Chr1:216323661 [GRCh38]
Chr1:216497003 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.651+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446302]|Usher syndrome [RCV001526995]|Usher syndrome type 2A [RCV000668857]|Usher syndrome type 2A [RCV003446301]|not provided [RCV001054302] Chr1:216418513 [GRCh38]
Chr1:216591855 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.852_853del microsatellite Retinal dystrophy [RCV001074740]|Retinitis pigmentosa 39 [RCV003446304]|Usher syndrome type 2A [RCV000668909]|Usher syndrome type 2A [RCV003446303]|not provided [RCV001202957] Chr1:216325595..216325596 [GRCh38]
Chr1:216498937..216498938 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter) single nucleotide variant Usher syndrome type 2A [RCV000669154] Chr1:215625813 [GRCh38]
Chr1:215799155 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro) single nucleotide variant Usher syndrome type 2A [RCV000669451] Chr1:215743191 [GRCh38]
Chr1:215916533 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr) single nucleotide variant Usher syndrome type 2A [RCV001826061]|not provided [RCV001367610] Chr1:216089028 [GRCh38]
Chr1:216262370 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs) deletion Usher syndrome type 2A [RCV000669737] Chr1:215634596..215634609 [GRCh38]
Chr1:215807938..215807951 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6868dup (p.Ser2290fs) duplication Usher syndrome type 2A [RCV000669740] Chr1:215970713..215970714 [GRCh38]
Chr1:216144055..216144056 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV001578966]|Retinitis pigmentosa [RCV000356379]|Usher syndrome type 2A [RCV000394505]|not provided [RCV000943840]|not specified [RCV000611914] Chr1:216199906 [GRCh38]
Chr1:216373248 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) single nucleotide variant Retinal dystrophy [RCV001073245]|Retinitis pigmentosa 39 [RCV003453281]|Usher syndrome type 2A [RCV000669141]|Usher syndrome type 2A [RCV003453280]|not provided [RCV001389152] Chr1:215888570 [GRCh38]
Chr1:216061912 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14791+2T>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446306]|Usher syndrome type 2A [RCV000669209]|Usher syndrome type 2A [RCV003446305]|not provided [RCV001855516] Chr1:215647520 [GRCh38]
Chr1:215820862 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003453285]|Usher syndrome type 2A [RCV000669312]|Usher syndrome type 2A [RCV003453284]|not provided [RCV002532087] Chr1:215970767 [GRCh38]
Chr1:216144109 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5561_5572+7dup duplication Usher syndrome type 2A [RCV000669323] Chr1:216078081..216078082 [GRCh38]
Chr1:216251423..216251424 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11500T>A (p.Leu3834Met) single nucleotide variant not specified [RCV000604261] Chr1:215743225 [GRCh38]
Chr1:215916567 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys) single nucleotide variant Usher syndrome type 2A [RCV000668955] Chr1:215900177 [GRCh38]
Chr1:216073519 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile) single nucleotide variant not provided [RCV002528774]|not specified [RCV000604697] Chr1:215888551 [GRCh38]
Chr1:216061893 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu) single nucleotide variant Inborn genetic diseases [RCV000622736] Chr1:215782920 [GRCh38]
Chr1:215956262 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7130dup (p.Asn2377fs) duplication Usher syndrome type 2A [RCV000669369] Chr1:215934785..215934786 [GRCh38]
Chr1:216108127..216108128 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1A>G (p.Met1Val) single nucleotide variant Retinitis pigmentosa [RCV001101306]|Usher syndrome type 2A [RCV000669526]|Usher syndrome type 2A [RCV001101305]|not provided [RCV001855521] Chr1:216422336 [GRCh38]
Chr1:216595678 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000322788]|Retinitis pigmentosa-deafness syndrome [RCV000376961]|not provided [RCV001431571] Chr1:216292226 [GRCh38]
Chr1:216465568 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003472120]|Usher syndrome type 2A [RCV000669952]|not provided [RCV002531241] Chr1:216325408 [GRCh38]
Chr1:216498750 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup) duplication Usher syndrome type 2A [RCV000670045] Chr1:215674243..215674244 [GRCh38]
Chr1:215847585..215847586 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15519+7T>C single nucleotide variant not provided [RCV001494123] Chr1:215628807 [GRCh38]
Chr1:215802149 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4086T>G (p.Pro1362=) single nucleotide variant not provided [RCV001494156] Chr1:216196718 [GRCh38]
Chr1:216370060 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2016G>A (p.Gln672=) single nucleotide variant not provided [RCV001493769] Chr1:216251054 [GRCh38]
Chr1:216424396 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+562C>T single nucleotide variant Retinitis pigmentosa [RCV000286445]|Usher syndrome type 2A [RCV000341464] Chr1:216174690 [GRCh38]
Chr1:216348032 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+561T>C single nucleotide variant Retinitis pigmentosa [RCV000282986]|Usher syndrome type 2A [RCV000377455] Chr1:216174691 [GRCh38]
Chr1:216348033 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+161T>C single nucleotide variant Retinitis pigmentosa [RCV000273805]|Usher syndrome type 2A [RCV000368278] Chr1:216175091 [GRCh38]
Chr1:216348433 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2135del (p.Asn711_Ser712insTer) deletion Leber congenital amaurosis [RCV000754980] Chr1:216250935 [GRCh38]
Chr1:216424277 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) single nucleotide variant Leber congenital amaurosis [RCV000754981]|Retinal dystrophy [RCV001074999]|Retinitis pigmentosa 39 [RCV003453393]|Usher syndrome type 2A [RCV001830475]|Usher syndrome type 2A [RCV002485566]|not provided [RCV001061172] Chr1:216289290 [GRCh38]
Chr1:216462632 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5857+17A>C single nucleotide variant Retinitis pigmentosa 39 [RCV003445824]|Usher syndrome type 2A [RCV003445823]|not provided [RCV001519719]|not specified [RCV000241906] Chr1:216072872 [GRCh38]
Chr1:216246214 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1840+19C>G single nucleotide variant not specified [RCV000249355] Chr1:216292156 [GRCh38]
Chr1:216465498 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003475859]|Usher syndrome type 2A [RCV001276244]|not provided [RCV000255960] Chr1:216072910 [GRCh38]
Chr1:216246252 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.-355C>G single nucleotide variant Retinitis pigmentosa [RCV000271131]|Usher syndrome type 2A [RCV000328441] Chr1:216423364 [GRCh38]
Chr1:216596706 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+699C>A single nucleotide variant Retinitis pigmentosa 39 [RCV003445882]|Retinitis pigmentosa [RCV000330557]|Usher syndrome type 2A [RCV000275589]|not provided [RCV001618506] Chr1:216174553 [GRCh38]
Chr1:216347895 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) duplication Retinitis pigmentosa 39 [RCV003449251]|Retinitis pigmentosa [RCV001199569]|not provided [RCV000487538] Chr1:215766752..215766753 [GRCh38]
Chr1:215940094..215940095 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn) single nucleotide variant Usher syndrome type 2 [RCV001199575]|not provided [RCV000487569] Chr1:215675019 [GRCh38]
Chr1:215848361 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=) single nucleotide variant Usher syndrome type 2A [RCV001274238]|not provided [RCV000487605] Chr1:215888621 [GRCh38]
Chr1:216061963 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4335T>G (p.Thr1445=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454768]|Usher syndrome type 2A [RCV003454767]|not provided [RCV001415630]|not specified [RCV000250472] Chr1:216190284 [GRCh38]
Chr1:216363626 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+281T>C single nucleotide variant Retinitis pigmentosa [RCV000313659]|Usher syndrome type 2A [RCV000397934] Chr1:216174971 [GRCh38]
Chr1:216348313 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+1205_4627+1208del deletion Retinitis Pigmentosa, Recessive [RCV000332183]|Retinitis pigmentosa-deafness syndrome [RCV000386444] Chr1:216174044..216174047 [GRCh38]
Chr1:216347386..216347389 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.-181C>T single nucleotide variant Retinitis pigmentosa [RCV000356928]|Usher syndrome type 2A [RCV000299647] Chr1:216422517 [GRCh38]
Chr1:216595859 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+851A>G single nucleotide variant Retinitis pigmentosa [RCV000394434]|Usher syndrome type 2A [RCV000300285] Chr1:216174401 [GRCh38]
Chr1:216347743 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+801C>G single nucleotide variant Retinitis pigmentosa [RCV000315505]|Usher syndrome type 2A [RCV000370156] Chr1:216174451 [GRCh38]
Chr1:216347793 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+411A>G single nucleotide variant Retinitis pigmentosa [RCV000397941]|Usher syndrome type 2A [RCV000337990] Chr1:216174841 [GRCh38]
Chr1:216348183 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+1142G>T single nucleotide variant Retinitis pigmentosa [RCV000347288]|Usher syndrome type 2A [RCV000292348] Chr1:216174110 [GRCh38]
Chr1:216347452 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.4627+1038T>C single nucleotide variant Retinitis pigmentosa [RCV000394423]|Usher syndrome type 2A [RCV000343421] Chr1:216174214 [GRCh38]
Chr1:216347556 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.4627+145T>G single nucleotide variant Retinitis pigmentosa [RCV000310209]|Usher syndrome type 2A [RCV000364916]|not provided [RCV001539312] Chr1:216175107 [GRCh38]
Chr1:216348449 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.-229C>T single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000394513]|Retinitis pigmentosa-deafness syndrome [RCV000298323] Chr1:216423238 [GRCh38]
Chr1:216596580 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003454787]|Usher syndrome type 2A [RCV003454786]|not provided [RCV000269343] Chr1:215965386 [GRCh38]
Chr1:216138728 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3317-8C>A single nucleotide variant not provided [RCV000271059] Chr1:216200129 [GRCh38]
Chr1:216373471 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003454788]|Usher syndrome type 2A [RCV001835748]|not provided [RCV000725071]|not specified [RCV000334652] Chr1:215998942 [GRCh38]
Chr1:216172284 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003454832]|Usher syndrome type 2A [RCV001078204]|not provided [RCV000336999] Chr1:215889033 [GRCh38]
Chr1:216062375 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) single nucleotide variant Retinal dystrophy [RCV001073464]|Retinitis pigmentosa [RCV000504866]|Usher syndrome type 2A [RCV000670917]|Usher syndrome type 2A [RCV001274241]|not provided [RCV000373313]|not specified [RCV000826074] Chr1:215900194 [GRCh38]
Chr1:216073536 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5619C>T (p.Val1873=) single nucleotide variant not provided [RCV000305881] Chr1:216073254 [GRCh38]
Chr1:216246596 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3086del (p.Gly1029fs) deletion not provided [RCV000296372] Chr1:216217458 [GRCh38]
Chr1:216390800 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7573C>A (p.Pro2525Thr) single nucleotide variant not provided [RCV000340612] Chr1:215900096 [GRCh38]
Chr1:216073438 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9958+8G>T single nucleotide variant not provided [RCV000275262] Chr1:215798899 [GRCh38]
Chr1:215972241 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg) single nucleotide variant Retinitis pigmentosa [RCV001723872]|Usher syndrome [RCV003323493]|not provided [RCV000308238] Chr1:216292202 [GRCh38]
Chr1:216465544 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1840+4A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003445830]|Usher syndrome type 2A [RCV003445829]|not provided [RCV000344833] Chr1:216292171 [GRCh38]
Chr1:216465513 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+610G>A single nucleotide variant Retinitis pigmentosa [RCV000272005]|Usher syndrome type 2A [RCV000385107] Chr1:216174642 [GRCh38]
Chr1:216347984 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14175G>A (p.Trp4725Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003463751]|not provided [RCV000316815] Chr1:215650760 [GRCh38]
Chr1:215824102 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4252-36CTTT[7] microsatellite Retinitis Pigmentosa, Recessive [RCV000362323]|Retinitis pigmentosa-deafness syndrome [RCV000307584]|not provided [RCV001426138] Chr1:216190379..216190380 [GRCh38]
Chr1:216363721..216363722 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln) single nucleotide variant Cone-rod dystrophy [RCV000678642]|Retinitis pigmentosa 39 [RCV003454811]|Usher syndrome type 2A [RCV003454810]|not provided [RCV000487925] Chr1:215782169 [GRCh38]
Chr1:215955511 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=) single nucleotide variant Usher syndrome type 2A [RCV001833360]|not provided [RCV000311667] Chr1:215647553 [GRCh38]
Chr1:215820895 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003454809]|Usher syndrome type 2A [RCV003454808]|not provided [RCV000383524] Chr1:216190337 [GRCh38]
Chr1:216363679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003454816]|Usher syndrome type 2A [RCV003454815]|not provided [RCV000384845] Chr1:216084754 [GRCh38]
Chr1:216258096 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr) single nucleotide variant Inborn genetic diseases [RCV002519276]|Usher syndrome type 2A [RCV001276963]|not provided [RCV000281270] Chr1:215845842 [GRCh38]
Chr1:216019184 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003454828]|Usher syndrome type 2A [RCV003454827]|not provided [RCV000347895] Chr1:215878929 [GRCh38]
Chr1:216052271 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr) single nucleotide variant Inborn genetic diseases [RCV003243047]|Retinitis pigmentosa 39 [RCV003454820]|Usher syndrome type 2A [RCV001828262]|not provided [RCV000351338] Chr1:215878770 [GRCh38]
Chr1:216052112 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.151A>G (p.Ile51Val) single nucleotide variant not provided [RCV000350826] Chr1:216422186 [GRCh38]
Chr1:216595528 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) single nucleotide variant Retinal dystrophy [RCV001075586]|Retinitis pigmentosa 39 [RCV000678644]|Retinitis pigmentosa [RCV000504963]|Usher syndrome [RCV001089679]|Usher syndrome type 2A [RCV000675149]|not provided [RCV000498898] Chr1:215675337 [GRCh38]
Chr1:215848679 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) single nucleotide variant Inborn genetic diseases [RCV002518828]|Retinal dystrophy [RCV001073259]|Usher syndrome type 2A [RCV001274939]|not provided [RCV000724948]|not specified [RCV000387630] Chr1:215743258 [GRCh38]
Chr1:215916600 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003454798]|Usher syndrome type 2A [RCV001833362]|not provided [RCV000285367] Chr1:215813871 [GRCh38]
Chr1:215987213 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=) single nucleotide variant Usher syndrome type 2A [RCV001271909]|not provided [RCV000387659] Chr1:215629027 [GRCh38]
Chr1:215802369 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val) single nucleotide variant Inborn genetic diseases [RCV002519209]|Retinitis pigmentosa 39 [RCV003454797]|Usher syndrome type 2A [RCV002487231]|Usher syndrome type 2A [RCV003454796]|not provided [RCV000391754] Chr1:216078251 [GRCh38]
Chr1:216251593 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=) single nucleotide variant not provided [RCV000391419] Chr1:215629027 [GRCh38]
Chr1:215802369 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12443T>C (p.Leu4148Pro) single nucleotide variant not provided [RCV000321105] Chr1:215675468 [GRCh38]
Chr1:215848810 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile) single nucleotide variant Retinitis pigmentosa [RCV000264965]|Usher syndrome type 2A [RCV000359614] Chr1:216198427 [GRCh38]
Chr1:216371769 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9390G>A (p.Trp3130Ter) single nucleotide variant not provided [RCV000374543] Chr1:215817177 [GRCh38]
Chr1:215990519 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=) single nucleotide variant Usher syndrome type 2A [RCV001272938]|not provided [RCV000395763] Chr1:215671032 [GRCh38]
Chr1:215844374 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.-289C>T single nucleotide variant Retinitis pigmentosa [RCV000369421]|Usher syndrome type 2A [RCV000277382] Chr1:216423298 [GRCh38]
Chr1:216596640 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003454794]|Retinitis pigmentosa [RCV001097360]|Usher syndrome type 2A [RCV001099107]|not provided [RCV000290997] Chr1:216323586 [GRCh38]
Chr1:216496928 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3316+6T>C single nucleotide variant Retinitis pigmentosa 39 [RCV003445828]|Usher syndrome type 2A [RCV003445827]|not provided [RCV000324840] Chr1:216207267 [GRCh38]
Chr1:216380609 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003454791]|Usher syndrome type 2A [RCV003454790]|not provided [RCV000396597] Chr1:215675456 [GRCh38]
Chr1:215848798 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13586C>T (p.Pro4529Leu) single nucleotide variant not provided [RCV000261800] Chr1:215674325 [GRCh38]
Chr1:215847667 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His) single nucleotide variant Retinitis pigmentosa 39 [RCV001579279]|Usher syndrome type 2A [RCV001579278]|not provided [RCV000400303] Chr1:216089095 [GRCh38]
Chr1:216262437 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=) single nucleotide variant not provided [RCV000263364] Chr1:215998926 [GRCh38]
Chr1:216172268 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003454805]|Usher syndrome type 2A [RCV001526432]|not provided [RCV000402596] Chr1:215845887 [GRCh38]
Chr1:216019229 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala) single nucleotide variant Usher syndrome type 2A [RCV001273708]|not provided [RCV000265505] Chr1:215845871 [GRCh38]
Chr1:216019213 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003454822]|Usher syndrome type 2A [RCV003454821]|not provided [RCV000299577] Chr1:215640694 [GRCh38]
Chr1:215814036 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) single nucleotide variant Usher syndrome type 2A [RCV001196427]|not provided [RCV000487893] Chr1:215900128 [GRCh38]
Chr1:216073470 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.792G>A (p.Glu264=) single nucleotide variant not provided [RCV000367356] Chr1:216327647 [GRCh38]
Chr1:216500989 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly) single nucleotide variant Inborn genetic diseases [RCV003278745]|Retinitis pigmentosa 39 [RCV003454834]|Usher syndrome type 2A [RCV003454833]|not provided [RCV000404327] Chr1:215680315 [GRCh38]
Chr1:215853657 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) single nucleotide variant Usher syndrome [RCV000710317]|not provided [RCV000725036] Chr1:215628839 [GRCh38]
Chr1:215802181 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) duplication Retinal dystrophy [RCV001073771]|Retinitis pigmentosa 39 [RCV000678656]|See cases [RCV002287402]|Usher syndrome type 2A [RCV000984233]|not provided [RCV000264474] Chr1:215888698..215888699 [GRCh38]
Chr1:216062040..216062041 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11585C>G (p.Thr3862Arg) single nucleotide variant Retinal dystrophy [RCV001074220]|not provided [RCV000335604] Chr1:215741501 [GRCh38]
Chr1:215914843 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) single nucleotide variant Usher syndrome type 2A [RCV001273047]|not provided [RCV000598287] Chr1:216072944 [GRCh38]
Chr1:216246286 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003454069]|Usher syndrome type 2A [RCV003454068]|not provided [RCV002283222] Chr1:216070103 [GRCh38]
Chr1:216243445 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala) single nucleotide variant Usher syndrome type 2A [RCV001831281]|not provided [RCV001368453] Chr1:215766759 [GRCh38]
Chr1:215940101 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5776+2T>C single nucleotide variant not provided [RCV000489337] Chr1:216073095 [GRCh38]
Chr1:216246437 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2726C>A (p.Pro909His) single nucleotide variant Inborn genetic diseases [RCV002537859]|Retinitis pigmentosa 39 [RCV003449830]|Usher syndrome type 2A [RCV001279669]|not provided [RCV002541716] Chr1:216246668 [GRCh38]
Chr1:216420010 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7595-1963C>T single nucleotide variant not provided [RCV001564393] Chr1:215891017 [GRCh38]
Chr1:216064359 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys) single nucleotide variant Usher syndrome type 2A [RCV001278863] Chr1:215674985 [GRCh38]
Chr1:215848327 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met) single nucleotide variant Usher syndrome type 2A [RCV001278870]|not provided [RCV002541695] Chr1:215780003 [GRCh38]
Chr1:215953345 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met) single nucleotide variant Usher syndrome type 2A [RCV001278881] Chr1:215888723 [GRCh38]
Chr1:216062065 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10909A>C (p.Thr3637Pro) single nucleotide variant not provided [RCV003239232] Chr1:215779873 [GRCh38]
Chr1:215953215 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=) single nucleotide variant Usher syndrome type 2A [RCV001278885]|not provided [RCV002069442] Chr1:215934698 [GRCh38]
Chr1:216108040 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe) single nucleotide variant Retinal dystrophy [RCV001075400]|Retinitis pigmentosa 39 [RCV003449248]|Usher syndrome type 2A [RCV003449247]|not provided [RCV000487742] Chr1:215675492 [GRCh38]
Chr1:215848834 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449255]|Usher syndrome type 2A [RCV003449254]|not provided [RCV000487762] Chr1:216292370 [GRCh38]
Chr1:216465712 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5573-60A>C single nucleotide variant not provided [RCV001547184] Chr1:216073360 [GRCh38]
Chr1:216246702 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly) single nucleotide variant Usher syndrome [RCV003389473]|not provided [RCV000487808] Chr1:215674262 [GRCh38]
Chr1:215847604 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5777-2A>C single nucleotide variant Usher syndrome type 2 [RCV001199579]|Usher syndrome type 2A [RCV003446084]|not provided [RCV000487963] Chr1:216072971 [GRCh38]
Chr1:216246313 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His) single nucleotide variant Retinitis pigmentosa 39 [RCV001579149]|Usher syndrome type 2A [RCV001579148] Chr1:215675460 [GRCh38]
Chr1:215848802 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser) single nucleotide variant Retinitis pigmentosa [RCV001199794]|not provided [RCV000488016] Chr1:216199977 [GRCh38]
Chr1:216373319 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.486-2A>C single nucleotide variant Usher syndrome type 2A [RCV002283815] Chr1:216418681 [GRCh38]
Chr1:216592023 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003454559]|Retinitis pigmentosa [RCV000505039]|Usher syndrome type 2A [RCV000490445]|Usher syndrome type 2A [RCV002503836]|not provided [RCV002515601] Chr1:215766729 [GRCh38]
Chr1:215940071 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) single nucleotide variant Usher syndrome type 2A [RCV000490448]|Usher syndrome type 2A [RCV000665617]|not provided [RCV002517445]|not specified [RCV002282046] Chr1:215965437 [GRCh38]
Chr1:216138779 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.4685delinsAT (p.Ser1562fs) indel Retinitis pigmentosa 39 [RCV003315184] Chr1:216097156 [GRCh38]
Chr1:216270498 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=) single nucleotide variant Usher syndrome type 2A [RCV001277526] Chr1:215640565 [GRCh38]
Chr1:215813907 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn) single nucleotide variant Usher syndrome type 2A [RCV001277528] Chr1:215647655 [GRCh38]
Chr1:215820997 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met) single nucleotide variant Usher syndrome type 2A [RCV001277531]|not provided [RCV002541662] Chr1:215674171 [GRCh38]
Chr1:215847513 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) single nucleotide variant Retinal dystrophy [RCV001075402]|Retinitis pigmentosa 39 [RCV003449250]|Usher syndrome type 2A [RCV000674295]|Usher syndrome type 2A [RCV003449249]|not provided [RCV000488168] Chr1:215741492 [GRCh38]
Chr1:215914834 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6554A>G (p.His2185Arg) single nucleotide variant not provided [RCV000488226] Chr1:215998990 [GRCh38]
Chr1:216172332 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003449252]|Usher syndrome type 2A [RCV000667007]|Usher syndrome type 2A [RCV001834579]|not provided [RCV000488256] Chr1:215878800 [GRCh38]
Chr1:216052142 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser) single nucleotide variant Usher syndrome type 2 [RCV001199584]|not provided [RCV000488312] Chr1:215670976 [GRCh38]
Chr1:215844318 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) single nucleotide variant Usher syndrome type 2 [RCV001199588]|Usher syndrome type 2A [RCV003449253]|not provided [RCV000488319] Chr1:216207368 [GRCh38]
Chr1:216380710 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val) single nucleotide variant Retinitis pigmentosa 39 [RCV001578838]|Usher syndrome type 2A [RCV001578837] Chr1:215759676 [GRCh38]
Chr1:215933018 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1377T>A (p.Pro459=) single nucleotide variant not provided [RCV000488413] Chr1:216323647 [GRCh38]
Chr1:216496989 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly) single nucleotide variant Usher syndrome type 2A [RCV001829676]|not provided [RCV000596571] Chr1:215674568 [GRCh38]
Chr1:215847910 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12271A>G (p.Met4091Val) single nucleotide variant not provided [RCV000488970] Chr1:215680172 [GRCh38]
Chr1:215853514 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451451]|Usher syndrome type 2A [RCV001834950]|Usher syndrome type 2A [RCV002476370]|not provided [RCV000900596]|not specified [RCV000606705] Chr1:216070149 [GRCh38]
Chr1:216243491 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.-289C>A single nucleotide variant Retinitis pigmentosa [RCV000368022]|Usher syndrome type 2A [RCV000330037] Chr1:216423298 [GRCh38]
Chr1:216596640 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+945AT[3] microsatellite Retinitis Pigmentosa, Recessive [RCV000303688]|Retinitis pigmentosa-deafness syndrome [RCV000358595] Chr1:216174300..216174301 [GRCh38]
Chr1:216347642..216347643 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu) single nucleotide variant Retinitis pigmentosa [RCV000386343]|Usher syndrome type 2A [RCV000331798] Chr1:216199713 [GRCh38]
Chr1:216373055 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys) single nucleotide variant Retinitis pigmentosa [RCV000347353]|Usher syndrome type 2A [RCV000396512] Chr1:216190343 [GRCh38]
Chr1:216363685 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala) single nucleotide variant Retinitis pigmentosa [RCV000350748]|Usher syndrome type 2A [RCV000405970] Chr1:216190270 [GRCh38]
Chr1:216363612 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala) single nucleotide variant not provided [RCV000597228] Chr1:216198509 [GRCh38]
Chr1:216371851 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr) single nucleotide variant Retinitis pigmentosa [RCV000295791]|Usher syndrome type 2A [RCV000371784] Chr1:216190253 [GRCh38]
Chr1:216363595 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+330A>G single nucleotide variant Retinitis pigmentosa [RCV000334658]|Usher syndrome type 2A [RCV000298211] Chr1:216174922 [GRCh38]
Chr1:216348264 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003451355]|Usher syndrome type 2A [RCV001274952]|not provided [RCV001341126]|not specified [RCV000605031] Chr1:215782833 [GRCh38]
Chr1:215956175 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+1091T>C single nucleotide variant Retinitis pigmentosa [RCV000403490]|Usher syndrome type 2A [RCV000288390] Chr1:216174161 [GRCh38]
Chr1:216347503 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) single nucleotide variant Rare genetic deafness [RCV000605356]|Retinitis pigmentosa 39 [RCV003471974]|Usher syndrome [RCV000710334]|Usher syndrome type 2A [RCV001271137]|not provided [RCV001057761] Chr1:215758743 [GRCh38]
Chr1:215932085 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) single nucleotide variant Rare genetic deafness [RCV000605510]|Retinitis pigmentosa 39 [RCV003451354]|Usher syndrome type 2A [RCV000669125]|Usher syndrome type 2A [RCV001002689]|not provided [RCV001208453] Chr1:216097196 [GRCh38]
Chr1:216270538 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4627+589C>A single nucleotide variant Retinitis pigmentosa [RCV000380858]|Usher syndrome type 2A [RCV000327012] Chr1:216174663 [GRCh38]
Chr1:216348005 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.-159G>C single nucleotide variant Retinitis pigmentosa [RCV000343010]|Usher syndrome type 2A [RCV000394566] Chr1:216422495 [GRCh38]
Chr1:216595837 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14254G>A (p.Val4752Met) single nucleotide variant not specified [RCV000600455] Chr1:215650681 [GRCh38]
Chr1:215824023 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1803del (p.Gly602fs) deletion Usher syndrome [RCV000596173] Chr1:216292212 [GRCh38]
Chr1:216465554 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12624C>A (p.Asp4208Glu) single nucleotide variant not provided [RCV002529354]|not specified [RCV000600545] Chr1:215675287 [GRCh38]
Chr1:215848629 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala) single nucleotide variant not provided [RCV001213954]|not specified [RCV000606146] Chr1:216292216 [GRCh38]
Chr1:216465558 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.2(USH2A):c.4396+6857_6486-425del deletion Usher syndrome [RCV000591738] Chr1:215999483..216183366 [GRCh38]
Chr1:216172825..216356708 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6225G>C (p.Trp2075Cys) single nucleotide variant not provided [RCV000591829] Chr1:216046531 [GRCh38]
Chr1:216219873 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10901A>G (p.His3634Arg) single nucleotide variant not provided [RCV000592382] Chr1:215779881 [GRCh38]
Chr1:215953223 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=) single nucleotide variant not provided [RCV000730492] Chr1:216198325 [GRCh38]
Chr1:216371667 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5359G>A (p.Val1787Met) single nucleotide variant not provided [RCV000730497] Chr1:216078302 [GRCh38]
Chr1:216251644 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) duplication Retinitis pigmentosa 39 [RCV003451339]|Usher syndrome type 2A [RCV000666089]|Usher syndrome type 2A [RCV003451338]|not provided [RCV000593419] Chr1:215888469..215888470 [GRCh38]
Chr1:216061811..216061812 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6581A>G (p.Tyr2194Cys) single nucleotide variant not provided [RCV000595978] Chr1:215998963 [GRCh38]
Chr1:216172305 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10609C>T (p.Leu3537Phe) single nucleotide variant not provided [RCV000522433] Chr1:215782173 [GRCh38]
Chr1:215955515 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2809+2T>A single nucleotide variant Rare genetic deafness [RCV000605844]|Usher syndrome type 2A [RCV003446171]|not provided [RCV000599015] Chr1:216246583 [GRCh38]
Chr1:216419925 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1886G>T (p.Gly629Val) single nucleotide variant not provided [RCV000584928] Chr1:216289365 [GRCh38]
Chr1:216462707 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) single nucleotide variant Ear malformation [RCV001814193]|Retinal dystrophy [RCV001074303]|Retinitis pigmentosa 39 [RCV001376324]|Usher syndrome [RCV000592080]|Usher syndrome type 2A [RCV001271237]|Usher syndrome type 2A [RCV002506407]|not provided [RCV000599059] Chr1:216289375 [GRCh38]
Chr1:216462717 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449477]|Usher syndrome type 2A [RCV001274247]|not provided [RCV000521648] Chr1:215970728 [GRCh38]
Chr1:216144070 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216292165)_(216327664_?)del deletion not provided [RCV000816634] Chr1:216292165..216327664 [GRCh38]
Chr1:216465507..216501006 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2835C>T (p.Ala945=) single nucleotide variant not provided [RCV000593463] Chr1:216232111 [GRCh38]
Chr1:216405453 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1942A>G (p.Thr648Ala) single nucleotide variant not specified [RCV000601269] Chr1:216289309 [GRCh38]
Chr1:216462651 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003449490]|Usher syndrome type 2A [RCV001535507]|Usher syndrome type 2A [RCV003449489]|not provided [RCV000522172] Chr1:216048564 [GRCh38]
Chr1:216221906 [GRCh37]
Chr1:1q41
uncertain significance|not provided
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451341]|Usher syndrome type 2A [RCV003451340]|not provided [RCV000915960]|not specified [RCV000591302] Chr1:216250976 [GRCh38]
Chr1:216424318 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.6882C>T (p.Tyr2294=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451359]|Usher syndrome type 2A [RCV003451358]|not provided [RCV001504216]|not specified [RCV000605472] Chr1:215970700 [GRCh38]
Chr1:216144042 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003451347]|Usher syndrome type 2A [RCV001829672]|not provided [RCV000591367] Chr1:215790115 [GRCh38]
Chr1:215963457 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003451346]|Usher syndrome type 2A [RCV003451345]|not provided [RCV000591417] Chr1:216196668 [GRCh38]
Chr1:216370010 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.1644+10004_1972-12164del deletion Usher syndrome [RCV000591519] Chr1:216263262..216311879 [GRCh38]
Chr1:216436604..216485221 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451344]|Usher syndrome type 2A [RCV000665083]|Usher syndrome type 2A [RCV001834879]|not provided [RCV000592124] Chr1:216070197 [GRCh38]
Chr1:216243539 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) deletion Retinitis pigmentosa 39 [RCV000409412]|Usher syndrome type 2A [RCV000411819] Chr1:215674648..215674654 [GRCh38]
Chr1:215847990..215847996 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2416A>G (p.Thr806Ala) single nucleotide variant not provided [RCV000415731] Chr1:216246978 [GRCh38]
Chr1:216420320 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8845+4A>G single nucleotide variant not provided [RCV000415788] Chr1:215867003 [GRCh38]
Chr1:216040345 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003453524]|Usher syndrome type 2A [RCV003453523]|not provided [RCV000730520] Chr1:215965449 [GRCh38]
Chr1:216138791 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003453526]|Usher syndrome type 2A [RCV003453525]|not provided [RCV000730687] Chr1:215799045 [GRCh38]
Chr1:215972387 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) single nucleotide variant not provided [RCV000726649]|not specified [RCV000595275] Chr1:215888931 [GRCh38]
Chr1:216062273 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=) single nucleotide variant not provided [RCV000735063] Chr1:216190236 [GRCh38]
Chr1:216363578 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn) single nucleotide variant not provided [RCV000728419] Chr1:216289360 [GRCh38]
Chr1:216462702 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6722C>A (p.Pro2241His) single nucleotide variant Congenital sensorineural hearing impairment [RCV000414770]|Usher syndrome type 2A [RCV001199349] Chr1:215993103 [GRCh38]
Chr1:216166445 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5167+1G>C single nucleotide variant not provided [RCV000415878] Chr1:216084697 [GRCh38]
Chr1:216258039 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7206G>A (p.Leu2402=) single nucleotide variant not provided [RCV000728509] Chr1:215934710 [GRCh38]
Chr1:216108052 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8815A>G (p.Thr2939Ala) single nucleotide variant not provided [RCV000733236] Chr1:215867037 [GRCh38]
Chr1:216040379 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.299T>C (p.Leu100Pro) single nucleotide variant not provided [RCV000733244] Chr1:216422038 [GRCh38]
Chr1:216595380 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) microsatellite Retinal dystrophy [RCV001074252]|Retinitis pigmentosa 39 [RCV000412623]|Usher syndrome type 2A [RCV000411193]|not provided [RCV000820967] Chr1:215838016..215838017 [GRCh38]
Chr1:216011358..216011359 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) single nucleotide variant Retinal dystrophy [RCV001074930]|Retinitis pigmentosa 39 [RCV003449039]|Usher syndrome type 2A [RCV000671186]|Usher syndrome type 2A [RCV003449038]|not provided [RCV000416074] Chr1:215759786 [GRCh38]
Chr1:215933128 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser) single nucleotide variant Inborn genetic diseases [RCV001267049]|Retinitis pigmentosa 39 [RCV003453522]|Usher syndrome type 2A [RCV001825461]|not provided [RCV000730420] Chr1:215743219 [GRCh38]
Chr1:215916561 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12067-4A>G single nucleotide variant not provided [RCV000732302] Chr1:215680380 [GRCh38]
Chr1:215853722 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn) single nucleotide variant Inborn genetic diseases [RCV002535267]|Retinitis pigmentosa 39 [RCV003453531]|Usher syndrome type 2A [RCV001830620]|not provided [RCV000732328] Chr1:215838071 [GRCh38]
Chr1:216011413 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13004C>A (p.Ala4335Asp) single nucleotide variant not provided [RCV000416141] Chr1:215674907 [GRCh38]
Chr1:215848249 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003389472]|USH2A-Related Disorders [RCV003330661]|Usher syndrome type 2A [RCV001271992]|Usher syndrome type 2A [RCV002488860]|not provided [RCV000416248]|not specified [RCV000602087] Chr1:215970699 [GRCh38]
Chr1:216144041 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance|not provided
NM_206933.4(USH2A):c.9048C>A (p.Cys3016Ter) single nucleotide variant not provided [RCV000416258] Chr1:215845831 [GRCh38]
Chr1:216019173 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=) single nucleotide variant not provided [RCV000732415] Chr1:215867074 [GRCh38]
Chr1:216040416 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9372-1G>A single nucleotide variant Usher syndrome type 2A [RCV000735748] Chr1:215817196 [GRCh38]
Chr1:215990538 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003453530]|Usher syndrome type 2A [RCV003453529]|not provided [RCV000731521] Chr1:215759661 [GRCh38]
Chr1:215933003 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) single nucleotide variant Inborn genetic diseases [RCV002535362]|Retinal dystrophy [RCV001075084]|Usher syndrome type 2 [RCV002307609]|Usher syndrome type 2A [RCV001825481]|not provided [RCV000734013] Chr1:216198380 [GRCh38]
Chr1:216371722 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11390-10C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446585]|Usher syndrome type 2A [RCV003446584]|not provided [RCV001417120]|not specified [RCV001002427] Chr1:215743345 [GRCh38]
Chr1:215916687 [GRCh37]
Chr1:1q41
likely benign
NM_206933.2(USH2A):c.(?_4628)_(9371_?)del deletion Usher syndrome [RCV000594748] Chr1:216011333..216270555 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=) single nucleotide variant not provided [RCV000731552] Chr1:216048603 [GRCh38]
Chr1:216221945 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003453532]|Usher syndrome type 2A [RCV001830627]|not provided [RCV000732657] Chr1:216175389 [GRCh38]
Chr1:216348731 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12691C>T (p.Gln4231Ter) single nucleotide variant Retinal dystrophy [RCV001074515]|Retinitis pigmentosa 39 [RCV003449036]|not provided [RCV000412996] Chr1:215675220 [GRCh38]
Chr1:215848562 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10388-17_10388-7del deletion not provided [RCV000731889] Chr1:215782942..215782952 [GRCh38]
Chr1:215956284..215956294 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6175G>A (p.Val2059Ile) single nucleotide variant not provided [RCV000595102] Chr1:216046581 [GRCh38]
Chr1:216219923 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp) indel Inborn genetic diseases [RCV002535397]|Retinitis pigmentosa 39 [RCV003446417]|Usher syndrome type 2A [RCV003446416]|not provided [RCV000734876] Chr1:215786795..215786801 [GRCh38]
Chr1:215960137..215960143 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) deletion Retinitis pigmentosa 39 [RCV001376321]|not provided [RCV000727695] Chr1:216207292..216207293 [GRCh38]
Chr1:216380634..216380635 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.486-14G>A single nucleotide variant Retinal dystrophy [RCV001075754]|Retinitis pigmentosa 39 [RCV000678652]|Usher syndrome type 2A [RCV000673542]|Usher syndrome type 2A [RCV001828379]|not provided [RCV000414183] Chr1:216418693 [GRCh38]
Chr1:216592035 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10183-1375_10387+1389del deletion Usher syndrome [RCV000504705] Chr1:215785281..215788249 [GRCh38]
Chr1:215958623..215961591 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003464079]|Usher syndrome [RCV000504707]|Usher syndrome type 2A [RCV000674502]|not provided [RCV000657876] Chr1:215648684 [GRCh38]
Chr1:215822026 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys) single nucleotide variant Usher syndrome [RCV000504716]|Usher syndrome type 2A [RCV000669452]|not provided [RCV001389284] Chr1:216073270 [GRCh38]
Chr1:216246612 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_206933.4(USH2A):c.12954C>A (p.Tyr4318Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001542725]|Usher syndrome [RCV000504779]|not provided [RCV001380977] Chr1:215674957 [GRCh38]
Chr1:215848299 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3831_3834delinsG (p.Leu1278del) indel Usher syndrome [RCV000504843] Chr1:216198562..216198565 [GRCh38]
Chr1:216371904..216371907 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) single nucleotide variant Usher syndrome [RCV000504853]|Usher syndrome type 2A [RCV002470889]|not provided [RCV001360100] Chr1:216327619 [GRCh38]
Chr1:216500961 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser) single nucleotide variant Usher syndrome [RCV000504856]|Usher syndrome type 2A [RCV000666634] Chr1:216217550 [GRCh38]
Chr1:216390892 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12309del (p.Phe4103fs) deletion Usher syndrome [RCV000504911] Chr1:215675602 [GRCh38]
Chr1:215848944 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13750dup (p.Thr4584fs) duplication Usher syndrome [RCV000504941] Chr1:215674160..215674161 [GRCh38]
Chr1:215847502..215847503 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449421]|Usher syndrome [RCV000504984]|Usher syndrome type 2A [RCV000670615]|Usher syndrome type 2A [RCV003449420]|not provided [RCV002524404] Chr1:215782764 [GRCh38]
Chr1:215956106 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003449423]|Usher syndrome [RCV000505020]|Usher syndrome type 2A [RCV000670212]|Usher syndrome type 2A [RCV003449422]|not provided [RCV001865635] Chr1:215675092 [GRCh38]
Chr1:215848434 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11694del (p.Asn3899fs) deletion Usher syndrome [RCV000505093] Chr1:215741392 [GRCh38]
Chr1:215914734 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.895del (p.Gln299fs) deletion Retinitis pigmentosa 39 [RCV003464080]|Usher syndrome [RCV000505121]|not provided [RCV001389816] Chr1:216325553 [GRCh38]
Chr1:216498895 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8266del (p.Ser2756fs) deletion Usher syndrome type 2A [RCV000758201] Chr1:215879056 [GRCh38]
Chr1:216052398 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q41(chr1:215972794-216035558)x1 copy number loss See cases [RCV000447596] Chr1:215972794..216035558 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003464081]|Retinitis pigmentosa [RCV000504774]|Usher syndrome type 2A [RCV001834624]|not provided [RCV001300494] Chr1:216325522 [GRCh38]
Chr1:216498864 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
Single allele deletion Retinitis pigmentosa [RCV000504785] Chr1:216086023..216144867 [GRCh38]
Chr1:216259365..216318209 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln) single nucleotide variant Retinitis pigmentosa [RCV000504791] Chr1:215675216 [GRCh38]
Chr1:215848558 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) deletion Retinitis pigmentosa 39 [RCV003449430]|Retinitis pigmentosa [RCV000504834]|Usher syndrome [RCV000504990]|Usher syndrome type 2A [RCV001829439]|Usher syndrome type 2A [RCV002496963]|not provided [RCV001383885] Chr1:215798992..215799005 [GRCh38]
Chr1:215972334..215972347 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2994-10T>G single nucleotide variant Retinitis pigmentosa 39 [RCV003445988]|Usher syndrome type 2A [RCV003445987]|not provided [RCV001405836]|not specified [RCV000427561] Chr1:216217560 [GRCh38]
Chr1:216390902 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu) single nucleotide variant Retinitis pigmentosa [RCV000504870] Chr1:215743218 [GRCh38]
Chr1:215916560 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV001376218]|Retinitis pigmentosa [RCV000504889]|Usher syndrome type 2A [RCV001834625]|not provided [RCV001376751] Chr1:215798907 [GRCh38]
Chr1:215972249 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) single nucleotide variant Retinal dystrophy [RCV001073573]|Retinitis pigmentosa 39 [RCV003449425]|Retinitis pigmentosa [RCV000504899]|Usher syndrome [RCV003389475]|Usher syndrome type 2A [RCV000666545]|Usher syndrome type 2A [RCV001276258]|not provided [RCV000627213]|not specified [RCV001002566] Chr1:216196582 [GRCh38]
Chr1:216369924 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9259-503_9371+1650del deletion Retinitis pigmentosa [RCV000504955] Chr1:215836341..215838606 [GRCh38]
Chr1:216009683..216011948 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003449429]|Retinitis pigmentosa [RCV000504961]|Usher syndrome type 2A [RCV000669593]|Usher syndrome type 2A [RCV003449428]|not provided [RCV001857208] Chr1:215845995 [GRCh38]
Chr1:216019337 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9571-2A>G single nucleotide variant Retinal dystrophy [RCV001075684]|Retinitis pigmentosa 39 [RCV003446101]|Retinitis pigmentosa [RCV000505005]|Usher syndrome [RCV002231177]|Usher syndrome type 2A [RCV000670550]|Usher syndrome type 2A [RCV001829438]|not provided [RCV001057476] Chr1:215813906 [GRCh38]
Chr1:215987248 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003449424]|Retinitis pigmentosa [RCV000505006]|Usher syndrome type 2A [RCV000670549]|Usher syndrome type 2A [RCV001829436]|not provided [RCV001295874]|not specified [RCV001778981] Chr1:215674785 [GRCh38]
Chr1:215848127 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2705G>A (p.Cys902Tyr) single nucleotide variant Retinal dystrophy [RCV000505028] Chr1:216246689 [GRCh38]
Chr1:216420031 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003449432]|Retinitis pigmentosa [RCV000505042]|Usher syndrome type 2A [RCV000670590]|Usher syndrome type 2A [RCV003449431]|not provided [RCV001062508] Chr1:215790265 [GRCh38]
Chr1:215963607 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003470635]|Retinitis pigmentosa [RCV000505059]|not provided [RCV001379273] Chr1:215674580 [GRCh38]
Chr1:215847922 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8223+1G>C single nucleotide variant Retinitis pigmentosa [RCV000505079] Chr1:215888425 [GRCh38]
Chr1:216061767 [GRCh37]
Chr1:1q41
likely pathogenic
Single allele deletion Retinitis pigmentosa [RCV000505140] Chr1:215662828..215678590 [GRCh38]
Chr1:215836170..215851932 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6050-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446100]|Retinitis pigmentosa [RCV000505173]|Usher syndrome type 2A [RCV000674025]|Usher syndrome type 2A [RCV003446099]|not provided [RCV001062758] Chr1:216048648 [GRCh38]
Chr1:216221990 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3531T>C (p.Gly1177=) single nucleotide variant Retinitis pigmentosa 39 [RCV003449084]|Usher syndrome type 2A [RCV003449083]|not provided [RCV000928264] Chr1:216199907 [GRCh38]
Chr1:216373249 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg) single nucleotide variant Retinal dystrophy [RCV001073896]|Retinitis pigmentosa 39 [RCV003449098]|Usher syndrome type 2A [RCV001828454]|not provided [RCV000436442] Chr1:215675496 [GRCh38]
Chr1:215848838 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) single nucleotide variant Cone-rod dystrophy 3 [RCV002272234]|Retinal dystrophy [RCV001074794]|Retinitis pigmentosa 39 [RCV001095706]|Retinitis pigmentosa [RCV001003268]|USH2A-related condition [RCV003418121]|Usher syndrome [RCV002271497]|not provided [RCV000432643] Chr1:215970645 [GRCh38]
Chr1:216143987 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) single nucleotide variant Retinal dystrophy [RCV001073281]|Retinitis pigmentosa 39 [RCV003449048]|Usher syndrome type 2A [RCV001271125]|not provided [RCV000435312] Chr1:215680159 [GRCh38]
Chr1:215853501 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp) single nucleotide variant Retinitis pigmentosa [RCV000504635] Chr1:215900848 [GRCh38]
Chr1:216074190 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) single nucleotide variant Retinal dystrophy [RCV001075611]|Retinitis pigmentosa 39 [RCV001376250]|Retinitis pigmentosa [RCV000504661]|Usher syndrome type 2A [RCV001810454]|not provided [RCV000593818] Chr1:215798983 [GRCh38]
Chr1:215972325 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) indel Retinal dystrophy [RCV001074750]|Retinitis pigmentosa 39 [RCV001376291]|Retinitis pigmentosa [RCV000504662]|Usher syndrome type 2A [RCV001197198]|not provided [RCV000599475] Chr1:215674564..215674576 [GRCh38]
Chr1:215847906..215847918 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001376313]|Retinitis pigmentosa [RCV000504668]|Usher syndrome [RCV003479142]|Usher syndrome type 2A [RCV000673031]|Usher syndrome type 2A [RCV001273815]|not provided [RCV001039961] Chr1:216422237 [GRCh38]
Chr1:216595579 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV000589870]|Usher syndrome type 2A [RCV000667167]|Usher syndrome type 2A [RCV001833524]|not provided [RCV000438959] Chr1:216324269 [GRCh38]
Chr1:216497611 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val) single nucleotide variant Retinitis pigmentosa [RCV000504675] Chr1:215799080 [GRCh38]
Chr1:215972422 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003470634]|Retinitis pigmentosa [RCV000504678]|Usher syndrome [RCV001358731]|not provided [RCV000733677] Chr1:215674637 [GRCh38]
Chr1:215847979 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter) single nucleotide variant Retinitis pigmentosa [RCV000504698]|not provided [RCV001857206] Chr1:215741386 [GRCh38]
Chr1:215914728 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) single nucleotide variant Retinal dystrophy [RCV001074297]|Retinitis pigmentosa 39 [RCV000670712]|Retinitis pigmentosa [RCV000504721]|Usher syndrome type 2A [RCV001829437]|not provided [RCV000598833] Chr1:215674335 [GRCh38]
Chr1:215847677 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) single nucleotide variant Retinal dystrophy [RCV001073900]|Retinitis pigmentosa 39 [RCV003449426]|Retinitis pigmentosa [RCV000504729]|Usher syndrome type 2A [RCV000666277]|Usher syndrome type 2A [RCV001276255]|not provided [RCV001040695] Chr1:216175261 [GRCh38]
Chr1:216348603 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003449427]|Retinitis pigmentosa [RCV000504737]|Usher syndrome type 2A [RCV000669591]|Usher syndrome type 2A [RCV001834623]|not provided [RCV001857207]|not specified [RCV000826079] Chr1:215846028 [GRCh38]
Chr1:216019370 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) single nucleotide variant Retinal dystrophy [RCV001073650]|Retinitis pigmentosa 39 [RCV001578842]|Retinitis pigmentosa [RCV000504740]|Usher syndrome type 2A [RCV000666331]|Usher syndrome type 2A [RCV001004872]|not provided [RCV001239324]|not specified [RCV002222539] Chr1:216198369 [GRCh38]
Chr1:216371711 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV001376219]|Retinitis pigmentosa [RCV000504749]|not provided [RCV002527328] Chr1:215879038 [GRCh38]
Chr1:216052380 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449090]|Usher syndrome type 2A [RCV001271986]|not provided [RCV000430673] Chr1:215934625 [GRCh38]
Chr1:216107967 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13832C>G (p.Ala4611Gly) single nucleotide variant not provided [RCV000484856] Chr1:215671273 [GRCh38]
Chr1:215844615 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8546G>T (p.Gly2849Val) single nucleotide variant not provided [RCV000483762] Chr1:215878776 [GRCh38]
Chr1:216052118 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) single nucleotide variant Rare genetic deafness [RCV000599950]|not provided [RCV000484519]|not specified [RCV002222521] Chr1:216200030 [GRCh38]
Chr1:216373372 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV000984317]|Usher syndrome type 2A [RCV000984316]|not provided [RCV000485043] Chr1:215888482 [GRCh38]
Chr1:216061824 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3507G>A (p.Trp1169Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003449188]|Usher syndrome type 2A [RCV000674309]|Usher syndrome type 2A [RCV003449187]|not provided [RCV000485380] Chr1:216199931 [GRCh38]
Chr1:216373273 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10571C>A (p.Pro3524His) single nucleotide variant not provided [RCV000478468] Chr1:215782752 [GRCh38]
Chr1:215956094 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs) indel not provided [RCV000478730] Chr1:216073259 [GRCh38]
Chr1:216246601 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) insertion Retinal dystrophy [RCV001074094]|Retinitis pigmentosa 39 [RCV001376412]|USH2A-related condition [RCV003409652]|Usher syndrome type 2A [RCV003449171]|not provided [RCV000486038] Chr1:215680290..215680291 [GRCh38]
Chr1:215853632..215853633 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8558+40C>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446063]|Usher syndrome type 2A [RCV003446062]|not provided [RCV001513495]|not specified [RCV000455971] Chr1:215878724 [GRCh38]
Chr1:216052066 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3959C>A (p.Pro1320His) single nucleotide variant not provided [RCV000479096] Chr1:216198437 [GRCh38]
Chr1:216371779 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7595-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003464018]|Usher syndrome type 2A [RCV003446078]|not provided [RCV000486199] Chr1:215889056 [GRCh38]
Chr1:216062398 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2384G>A (p.Cys795Tyr) single nucleotide variant not provided [RCV000482550] Chr1:216247010 [GRCh38]
Chr1:216420352 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4125del (p.Tyr1376fs) deletion Retinitis pigmentosa 39 [RCV003470537]|not provided [RCV000479436] Chr1:216196679 [GRCh38]
Chr1:216370021 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3812-3_3837dup duplication Usher syndrome type 2A [RCV001271230]|not provided [RCV000486932]|not specified [RCV002307515] Chr1:216198558..216198559 [GRCh38]
Chr1:216371900..216371901 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.10741-1G>T single nucleotide variant not provided [RCV000479860] Chr1:215780042 [GRCh38]
Chr1:215953384 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) single nucleotide variant Retinal dystrophy [RCV001074179]|Retinitis pigmentosa 39 [RCV003463976]|Usher syndrome [RCV000504759]|not provided [RCV000480360] Chr1:216250989 [GRCh38]
Chr1:216424331 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His) single nucleotide variant Usher syndrome type 2A [RCV001276958]|not provided [RCV000498957] Chr1:215813861 [GRCh38]
Chr1:215987203 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NC_000001.10:g.216144119_216591855del447737 deletion Usher syndrome type 2A [RCV000504108] Chr1:215970777..216418513 [GRCh38]
Chr1:216144119..216591855 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003449454]|Usher syndrome type 2A [RCV001829452]|not provided [RCV002527372]|not specified [RCV000508452] Chr1:215817152 [GRCh38]
Chr1:215990494 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464064]|Usher syndrome type 2A [RCV003449387]|not provided [RCV000494028] Chr1:215782098 [GRCh38]
Chr1:215955440 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile) single nucleotide variant Usher syndrome type 2A [RCV001834643]|not provided [RCV000505942] Chr1:215680170 [GRCh38]
Chr1:215853512 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu) single nucleotide variant not specified [RCV000506559] Chr1:215625809 [GRCh38]
Chr1:215799151 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9258+3T>C single nucleotide variant not specified [RCV000506987] Chr1:215844291 [GRCh38]
Chr1:216017633 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) single nucleotide variant Childhood onset hearing loss [RCV001328024]|Retinal dystrophy [RCV001074764]|Retinitis pigmentosa 39 [RCV001374885]|not provided [RCV001425706]|not specified [RCV000507584] Chr1:215674550 [GRCh38]
Chr1:215847892 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) single nucleotide variant Retinal dystrophy [RCV001073605]|Retinal dystrophy [RCV002226464]|Retinitis pigmentosa 39 [RCV003126756]|Retinitis pigmentosa [RCV000787725]|Usher syndrome [RCV001252667]|not provided [RCV000492984] Chr1:215650716 [GRCh38]
Chr1:215824058 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His) single nucleotide variant Retinitis pigmentosa 39 [RCV003449386]|Usher syndrome type 2A [RCV001271979]|Usher syndrome type 2A [RCV002481569]|not provided [RCV000493363] Chr1:215900129 [GRCh38]
Chr1:216073471 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001727791]|Usher syndrome type 2A [RCV000669105]|Usher syndrome type 2A [RCV003453279]|not provided [RCV002531217] Chr1:216246597 [GRCh38]
Chr1:216419939 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8240del (p.Pro2747fs) deletion Retinitis pigmentosa 39 [RCV003453287]|Usher syndrome type 2A [RCV000669361]|Usher syndrome type 2A [RCV003453286]|not provided [RCV001268203] Chr1:215879082 [GRCh38]
Chr1:216052424 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His) single nucleotide variant Usher syndrome type 2A [RCV000670233] Chr1:215674135 [GRCh38]
Chr1:215847477 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7493del (p.Ser2498fs) deletion Retinitis pigmentosa 39 [RCV003453296]|Usher syndrome type 2A [RCV000670253]|Usher syndrome type 2A [RCV000680438]|not provided [RCV001234813] Chr1:215900176 [GRCh38]
Chr1:216073518 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13556del (p.Ile4518_Leu4519insTer) deletion Usher syndrome type 2A [RCV000670292] Chr1:215674355 [GRCh38]
Chr1:215847697 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003451373]|Usher syndrome type 2A [RCV001829713]|not provided [RCV003117375]|not specified [RCV000601054] Chr1:215728368 [GRCh38]
Chr1:215901710 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) single nucleotide variant Usher syndrome type 2A [RCV000669208]|not provided [RCV002532084]|not specified [RCV002265843] Chr1:216190312 [GRCh38]
Chr1:216363654 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.15577del (p.Glu5193fs) deletion Retinitis pigmentosa 39 [RCV003453283]|Usher syndrome type 2A [RCV000669227]|Usher syndrome type 2A [RCV003453282] Chr1:215625813 [GRCh38]
Chr1:215799155 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8835G>A (p.Trp2945Ter) single nucleotide variant Usher syndrome type 2A [RCV000669486] Chr1:215867017 [GRCh38]
Chr1:216040359 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453289]|Usher syndrome type 2A [RCV000669530]|Usher syndrome type 2A [RCV003453288]|not provided [RCV001268204] Chr1:216198476 [GRCh38]
Chr1:216371818 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser) single nucleotide variant Usher syndrome type 2A [RCV000669538] Chr1:215888461 [GRCh38]
Chr1:216061803 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003459612]|Usher syndrome type 2A [RCV000669541]|not provided [RCV001242045] Chr1:215782902 [GRCh38]
Chr1:215956244 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) single nucleotide variant Retinal dystrophy [RCV001073606]|Retinitis pigmentosa [RCV000787739]|Usher syndrome [RCV002271557]|Usher syndrome type 2A [RCV000669684]|not provided [RCV002532090] Chr1:215970680 [GRCh38]
Chr1:216144022 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys) single nucleotide variant Usher syndrome type 2A [RCV000669760] Chr1:216323684 [GRCh38]
Chr1:216497026 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9959-1G>A single nucleotide variant Usher syndrome type 2A [RCV000669892] Chr1:215790283 [GRCh38]
Chr1:215963625 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8845+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003472118]|Usher syndrome type 2A [RCV000669904] Chr1:215867006 [GRCh38]
Chr1:216040348 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs) duplication Rare genetic deafness [RCV000825553]|Retinitis pigmentosa 39 [RCV003453293]|Usher syndrome type 2A [RCV000670015]|Usher syndrome type 2A [RCV001829861]|not provided [RCV001855533] Chr1:216196610..216196611 [GRCh38]
Chr1:216369952..216369953 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453295]|Usher syndrome [RCV003155271]|Usher syndrome type 2A [RCV000670151]|Usher syndrome type 2A [RCV003453294]|not provided [RCV001855538] Chr1:216422294 [GRCh38]
Chr1:216595636 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln) single nucleotide variant Usher syndrome type 2A [RCV001829716]|not specified [RCV000601357] Chr1:216422155 [GRCh38]
Chr1:216595497 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2788A>T (p.Arg930Trp) single nucleotide variant Inborn genetic diseases [RCV003256102] Chr1:216246606 [GRCh38]
Chr1:216419948 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8457C>T (p.Thr2819=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451357]|Usher syndrome type 2A [RCV003451356]|not provided [RCV000938126]|not specified [RCV000601695] Chr1:215878865 [GRCh38]
Chr1:216052207 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.667dup (p.Ile223fs) duplication Retinitis pigmentosa 39 [RCV000625670] Chr1:216365069..216365070 [GRCh38]
Chr1:216538411..216538412 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12765G>C (p.Val4255=) single nucleotide variant not specified [RCV000607287] Chr1:215675146 [GRCh38]
Chr1:215848488 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14866C>T (p.Leu4956Phe) single nucleotide variant Inborn genetic diseases [RCV003281495] Chr1:215640660 [GRCh38]
Chr1:215814002 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs) deletion Retinal dystrophy [RCV001073236]|Retinitis pigmentosa 39 [RCV003451325]|Usher syndrome type 2A [RCV000588348]|Usher syndrome type 2A [RCV000668783]|not provided [RCV000804948] Chr1:216325336..216325337 [GRCh38]
Chr1:216498678..216498679 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8052T>C (p.Ile2684=) single nucleotide variant not provided [RCV002107209] Chr1:215888597 [GRCh38]
Chr1:216061939 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) single nucleotide variant Retinal dystrophy [RCV001075375]|not provided [RCV000907403]|not specified [RCV000600278] Chr1:215965439 [GRCh38]
Chr1:216138781 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003451343]|Usher syndrome type 2A [RCV000765071]|Usher syndrome type 2A [RCV001273814]|not provided [RCV000595335]|not specified [RCV000826078] Chr1:216418579 [GRCh38]
Chr1:216591921 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7104_7105dup (p.Phe2369fs) microsatellite Usher syndrome type 2A [RCV000671998] Chr1:215965331..215965332 [GRCh38]
Chr1:216138673..216138674 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) insertion Inborn genetic diseases [RCV000623620]|Retinitis pigmentosa 39 [RCV003465355]|Usher syndrome type 2A [RCV001198126]|not provided [RCV001387148] Chr1:216422237..216422238 [GRCh38]
Chr1:216595579..216595580 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val) single nucleotide variant Inborn genetic diseases [RCV000623819]|Retinitis pigmentosa 39 [RCV003451478]|Usher syndrome type 2A [RCV002466549] Chr1:215743188 [GRCh38]
Chr1:215916530 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14100C>T (p.Ser4700=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451458]|Usher syndrome type 2A [RCV003451457]|not provided [RCV000930244]|not specified [RCV000601229] Chr1:215671005 [GRCh38]
Chr1:215844347 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+3A>T single nucleotide variant Retinal dystrophy [RCV001074399]|Retinitis pigmentosa 39 [RCV001376314]|Usher syndrome type 2A [RCV000515699]|not provided [RCV001386131] Chr1:215758592 [GRCh38]
Chr1:215931934 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter) single nucleotide variant Retinitis pigmentosa [RCV003326090] Chr1:216084845 [GRCh38]
Chr1:216258187 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.652-9T>G single nucleotide variant not provided [RCV002529331]|not specified [RCV000602864] Chr1:216365094 [GRCh38]
Chr1:216538436 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6537T>C (p.Tyr2179=) single nucleotide variant not provided [RCV001417654]|not specified [RCV000601648] Chr1:215999007 [GRCh38]
Chr1:216172349 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) single nucleotide variant Inborn genetic diseases [RCV003258887]|Retinitis pigmentosa 39 [RCV003451379]|Usher syndrome type 2A [RCV001829717]|not specified [RCV000607107] Chr1:215790228 [GRCh38]
Chr1:215963570 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13695T>G (p.Tyr4565Ter) single nucleotide variant not provided [RCV000594393] Chr1:215674216 [GRCh38]
Chr1:215847558 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) single nucleotide variant Usher syndrome type 2A [RCV001834880]|not provided [RCV000594966] Chr1:215674364 [GRCh38]
Chr1:215847706 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5532G>T (p.Gln1844His) single nucleotide variant Inborn genetic diseases [RCV003263153] Chr1:216078129 [GRCh38]
Chr1:216251471 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14210G>T (p.Gly4737Val) single nucleotide variant Inborn genetic diseases [RCV003307012] Chr1:215650725 [GRCh38]
Chr1:215824067 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5876C>T (p.Thr1959Ile) single nucleotide variant Inborn genetic diseases [RCV003275488] Chr1:216070274 [GRCh38]
Chr1:216243616 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.147T>C (p.Val49=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451433]|Usher syndrome type 2A [RCV003451432]|not provided [RCV001719028] Chr1:216422190 [GRCh38]
Chr1:216595532 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15144G>C (p.Ala5048=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451438]|Usher syndrome type 2A [RCV003451437]|not provided [RCV000978851]|not specified [RCV000614918] Chr1:215634612 [GRCh38]
Chr1:215807954 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10387+5C>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446177]|Usher syndrome type 2A [RCV001834929]|not provided [RCV002531149]|not specified [RCV000612314] Chr1:215786665 [GRCh38]
Chr1:215960007 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13238C>G (p.Pro4413Arg) single nucleotide variant not specified [RCV000615143] Chr1:215674673 [GRCh38]
Chr1:215848015 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451365]|Usher syndrome type 2A [RCV003451364]|not provided [RCV000942878]|not specified [RCV000615217] Chr1:215889032 [GRCh38]
Chr1:216062374 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6114T>C (p.Ala2038=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451371]|Usher syndrome type 2A [RCV003451370]|not provided [RCV001410153]|not specified [RCV000601550] Chr1:216048583 [GRCh38]
Chr1:216221925 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9816G>A (p.Pro3272=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451400]|Usher syndrome type 2A [RCV003451399]|not provided [RCV001506673]|not specified [RCV000609782] Chr1:215799049 [GRCh38]
Chr1:215972391 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451456]|Usher syndrome type 2A [RCV001834954]|not provided [RCV001755995]|not specified [RCV000609836] Chr1:215782908 [GRCh38]
Chr1:215956250 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) single nucleotide variant Usher syndrome type 2A [RCV001829711]|not provided [RCV001317800]|not specified [RCV000615396] Chr1:215798948 [GRCh38]
Chr1:215972290 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3241A>G (p.Asn1081Asp) single nucleotide variant not specified [RCV000600492] Chr1:216207348 [GRCh38]
Chr1:216380690 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14642G>C (p.Ser4881Thr) single nucleotide variant not provided [RCV000968830]|not specified [RCV000615618] Chr1:215647671 [GRCh38]
Chr1:215821013 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) single nucleotide variant Inborn genetic diseases [RCV002528770]|Retinitis pigmentosa 39 [RCV003451450]|Usher syndrome type 2A [RCV001273046]|not provided [RCV001868086]|not specified [RCV000616040] Chr1:216072891 [GRCh38]
Chr1:216246233 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003451367]|Usher syndrome type 2A [RCV003451366]|not provided [RCV001370845]|not specified [RCV000606109] Chr1:215728356 [GRCh38]
Chr1:215901698 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.897A>G (p.Gln299=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451455]|Usher syndrome type 2A [RCV003451454]|not provided [RCV002528778]|not specified [RCV000612926] Chr1:216325551 [GRCh38]
Chr1:216498893 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003451362]|Usher syndrome type 2A [RCV003451361]|not provided [RCV001369422]|not specified [RCV000616148] Chr1:215625864 [GRCh38]
Chr1:215799206 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) deletion Retinal dystrophy [RCV001074344]|Retinitis pigmentosa 39 [RCV000667726]|Retinitis pigmentosa [RCV001003270]|Usher syndrome [RCV001269147]|Usher syndrome type 2A [RCV003326139]|not provided [RCV000596278] Chr1:216048538 [GRCh38]
Chr1:216221880 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003451372]|Usher syndrome type 2A [RCV001834931]|Usher syndrome type 2A [RCV002498894]|not provided [RCV000937131]|not specified [RCV000607419] Chr1:215838022 [GRCh38]
Chr1:216011364 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.3351A>G (p.Pro1117=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451378]|Usher syndrome type 2A [RCV003451377]|not provided [RCV001497003]|not specified [RCV000610337] Chr1:216200087 [GRCh38]
Chr1:216373429 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5538G>C (p.Leu1846=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451424]|Usher syndrome type 2A [RCV003451423]|not provided [RCV000879372]|not specified [RCV000613020] Chr1:216078123 [GRCh38]
Chr1:216251465 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10224A>G (p.Glu3408=) single nucleotide variant not specified [RCV000616261] Chr1:215786833 [GRCh38]
Chr1:215960175 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) single nucleotide variant Retinal dystrophy [RCV001073311]|Retinitis pigmentosa 39 [RCV000586218]|not provided [RCV001853963] Chr1:215877758 [GRCh38]
Chr1:216051100 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3811+10C>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446263]|Usher syndrome type 2A [RCV003446262]|not provided [RCV000980072]|not specified [RCV000607658] Chr1:216199617 [GRCh38]
Chr1:216372959 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) single nucleotide variant Retinitis pigmentosa [RCV001003256]|Usher syndrome type 2A [RCV001835857]|not provided [RCV000585084]|not specified [RCV001269243] Chr1:215675463 [GRCh38]
Chr1:215848805 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) single nucleotide variant Inborn genetic diseases [RCV002532735]|Usher syndrome type 2A [RCV001272950]|not provided [RCV001454312]|not specified [RCV000610578] Chr1:215675286 [GRCh38]
Chr1:215848628 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14134-9T>C single nucleotide variant Retinitis pigmentosa 39 [RCV003446255]|Usher syndrome type 2A [RCV003446254]|not provided [RCV001486918]|not specified [RCV000613377] Chr1:215650810 [GRCh38]
Chr1:215824152 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11047+1G>A single nucleotide variant Retinal dystrophy [RCV001075129]|Retinitis pigmentosa 39 [RCV000670491]|not provided [RCV000597898] Chr1:215766680 [GRCh38]
Chr1:215940022 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4958G>A (p.Arg1653Gln) single nucleotide variant not provided [RCV001411736]|not specified [RCV000608091] Chr1:216086748 [GRCh38]
Chr1:216260090 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) single nucleotide variant Retinal dystrophy [RCV001074189]|not provided [RCV001484867]|not specified [RCV000610790] Chr1:215877863 [GRCh38]
Chr1:216051205 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val) single nucleotide variant Usher syndrome type 2A [RCV001835877]|not specified [RCV000616738] Chr1:215674709 [GRCh38]
Chr1:215848051 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) single nucleotide variant Inborn genetic diseases [RCV003160046]|not provided [RCV000595031] Chr1:215934748 [GRCh38]
Chr1:216108090 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu) single nucleotide variant not provided [RCV000914799]|not specified [RCV000611010] Chr1:215877839 [GRCh38]
Chr1:216051181 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.687C>A (p.Gly229=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451369]|Usher syndrome type 2A [RCV003451368]|not provided [RCV001415742]|not specified [RCV000616976] Chr1:216365050 [GRCh38]
Chr1:216538392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile) single nucleotide variant Inborn genetic diseases [RCV003275348] Chr1:215674559 [GRCh38]
Chr1:215847901 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8190T>A (p.Pro2730=) single nucleotide variant not specified [RCV000611676] Chr1:215888459 [GRCh38]
Chr1:216061801 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13386C>T (p.Ile4462=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451460]|Usher syndrome type 2A [RCV003451459]|not provided [RCV001486154]|not specified [RCV000609189] Chr1:215674525 [GRCh38]
Chr1:215847867 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4886-12C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446176]|Usher syndrome type 2A [RCV003446175]|not provided [RCV002532736]|not specified [RCV000611842] Chr1:216086832 [GRCh38]
Chr1:216260174 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003451376]|Usher syndrome type 2A [RCV003451375]|not provided [RCV001868031]|not specified [RCV000614572] Chr1:216097097 [GRCh38]
Chr1:216270439 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.387del (p.Phe129fs) deletion Retinal dystrophy [RCV001075571]|Retinitis pigmentosa 39 [RCV003453337]|Usher syndrome type 2A [RCV000671976]|Usher syndrome type 2A [RCV003453336]|not provided [RCV001068679] Chr1:216421950 [GRCh38]
Chr1:216595292 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4821G>A (p.Trp1607Ter) single nucleotide variant Retinal dystrophy [RCV001074119]|Retinitis pigmentosa 39 [RCV003453339]|Usher syndrome [RCV003389478]|Usher syndrome type 2A [RCV000671982]|Usher syndrome type 2A [RCV003453338]|not provided [RCV001868259] Chr1:216089077 [GRCh38]
Chr1:216262419 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.449T>A (p.Leu150Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453345]|Usher syndrome type 2A [RCV000672162]|Usher syndrome type 2A [RCV003453344]|not provided [RCV002531308] Chr1:216421888 [GRCh38]
Chr1:216595230 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn) single nucleotide variant Usher syndrome type 2A [RCV000672313] Chr1:215888437 [GRCh38]
Chr1:216061779 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) single nucleotide variant Retinal dystrophy [RCV001074933]|Retinitis pigmentosa 39 [RCV001374884]|Usher syndrome [RCV001171541]|Usher syndrome type 2A [RCV000672328]|Usher syndrome type 2A [RCV000986516]|not provided [RCV001366541]|not specified [RCV002282318] Chr1:215674694 [GRCh38]
Chr1:215848036 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2279_2280del (p.Asn760fs) deletion Usher syndrome type 2A [RCV000625605] Chr1:216247114..216247115 [GRCh38]
Chr1:216420456..216420457 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8558+5G>A single nucleotide variant Retinitis pigmentosa 39 [RCV000625617]|not provided [RCV002531922] Chr1:215878759 [GRCh38]
Chr1:216052101 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10388-1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV000625627] Chr1:215782936 [GRCh38]
Chr1:215956278 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) single nucleotide variant Retinal dystrophy [RCV001074753]|Retinitis pigmentosa 39 [RCV003453276]|Usher syndrome [RCV001731867]|Usher syndrome type 2A [RCV000668847]|Usher syndrome type 2A [RCV001276145]|not provided [RCV000792611] Chr1:215639190 [GRCh38]
Chr1:215812532 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala) single nucleotide variant Usher syndrome type 2A [RCV000670081] Chr1:215639212 [GRCh38]
Chr1:215812554 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6050-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446311]|Usher syndrome type 2A [RCV000670084]|Usher syndrome type 2A [RCV001829862]|not provided [RCV001377849] Chr1:216048649 [GRCh38]
Chr1:216221991 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) deletion Rare genetic deafness [RCV000616874]|Retinal dystrophy [RCV001073531]|Retinitis pigmentosa 39 [RCV001335663]|Usher syndrome [RCV003387897]|Usher syndrome type 2A [RCV000665082]|Usher syndrome type 2A [RCV001195922]|not provided [RCV001202128] Chr1:215900145 [GRCh38]
Chr1:216073487 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5545_5554del (p.Ser1849fs) deletion Usher syndrome type 2A [RCV000578433]|not provided [RCV001853837] Chr1:216078107..216078116 [GRCh38]
Chr1:216251449..216251458 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) single nucleotide variant Leber congenital amaurosis [RCV000787898]|Retinitis pigmentosa 39 [RCV003465286]|Retinitis pigmentosa [RCV000787731]|Usher syndrome type 2A [RCV000670513]|not provided [RCV000578898] Chr1:216086749 [GRCh38]
Chr1:216260091 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10693T>C (p.Tyr3565His) single nucleotide variant not provided [RCV000512654] Chr1:215782089 [GRCh38]
Chr1:215955431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.11048-?_11711+?dup duplication Rare genetic deafness [RCV000595998] Chr1:215914717..215933185 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) single nucleotide variant Rare genetic deafness [RCV000613330]|Retinitis pigmentosa 39 [RCV001376397]|Usher syndrome [RCV003155245]|Usher syndrome type 2A [RCV000986515]|Usher syndrome type 2A [RCV002506444]|not provided [RCV001040115] Chr1:215648657 [GRCh38]
Chr1:215821999 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.253A>G (p.Ile85Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003449463]|Usher syndrome type 2A [RCV001829455]|not provided [RCV000512791] Chr1:216422084 [GRCh38]
Chr1:216595426 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003449462]|Usher syndrome type 2A [RCV001834646]|not provided [RCV000512835] Chr1:216199774 [GRCh38]
Chr1:216373116 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4646G>C (p.Arg1549Pro) single nucleotide variant not provided [RCV000512857] Chr1:216097195 [GRCh38]
Chr1:216270537 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:216260061-216270555)x1 copy number loss not provided [RCV000512976] Chr1:216260061..216270555 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003449459]|Usher syndrome type 2A [RCV002289698]|not provided [RCV000512980] Chr1:215675022 [GRCh38]
Chr1:215848364 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6032A>G (p.Asn2011Ser) single nucleotide variant not provided [RCV000513031] Chr1:216070118 [GRCh38]
Chr1:216243460 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9055+1del deletion Inborn genetic diseases [RCV000622297]|Usher syndrome type 2A [RCV003446265]|not provided [RCV002531876] Chr1:215845823 [GRCh38]
Chr1:216019165 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9958+6G>A single nucleotide variant not provided [RCV001306935]|not specified [RCV000600669] Chr1:215798901 [GRCh38]
Chr1:215972243 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr) single nucleotide variant Retinitis pigmentosa [RCV001199567]|not provided [RCV000513076] Chr1:215782828 [GRCh38]
Chr1:215956170 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.2999A>C (p.Gln1000Pro) single nucleotide variant not provided [RCV000585406] Chr1:216217545 [GRCh38]
Chr1:216390887 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1181C>G (p.Pro394Arg) single nucleotide variant not provided [RCV000597918] Chr1:216324315 [GRCh38]
Chr1:216497657 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=) single nucleotide variant Usher syndrome type 2A [RCV001834645]|not provided [RCV000513346] Chr1:215782910 [GRCh38]
Chr1:215956252 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg) single nucleotide variant Usher syndrome type 2 [RCV001199591]|not provided [RCV000513442] Chr1:216190254 [GRCh38]
Chr1:216363596 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) single nucleotide variant Hearing impairment [RCV001375184]|Retinal dystrophy [RCV001073947]|Retinitis pigmentosa 39 [RCV003449461]|Usher syndrome type 2A [RCV000672338]|Usher syndrome type 2A [RCV003449460]|not provided [RCV000513450] Chr1:216084747 [GRCh38]
Chr1:216258089 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser) single nucleotide variant Usher syndrome type 2A [RCV000673442] Chr1:215867159 [GRCh38]
Chr1:216040501 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14679del (p.Ala4894fs) deletion Usher syndrome type 2A [RCV000673446] Chr1:215647634 [GRCh38]
Chr1:215820976 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q41(chr1:215829463-219225857) copy number loss Micrognathia [RCV000626525] Chr1:215829463..219225857 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11013T>G (p.Pro3671=) single nucleotide variant not provided [RCV000513561] Chr1:215766715 [GRCh38]
Chr1:215940057 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14408T>C (p.Ile4803Thr) single nucleotide variant not provided [RCV000513586] Chr1:215648702 [GRCh38]
Chr1:215822044 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1672G>A (p.Asp558Asn) single nucleotide variant not provided [RCV000513648] Chr1:216292343 [GRCh38]
Chr1:216465685 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala) single nucleotide variant Usher syndrome type 2A [RCV001834926]|not specified [RCV000601359] Chr1:215743311 [GRCh38]
Chr1:215916653 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter) single nucleotide variant Inborn genetic diseases [RCV000624450]|Retinitis pigmentosa 39 [RCV003451479]|not provided [RCV001049229] Chr1:215647615 [GRCh38]
Chr1:215820957 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del) deletion Retinitis pigmentosa 39 [RCV003453341]|Usher syndrome type 2A [RCV000671991]|Usher syndrome type 2A [RCV003453340]|not provided [RCV002531302] Chr1:215844423..215844425 [GRCh38]
Chr1:216017765..216017767 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1972-1G>A single nucleotide variant Retinal dystrophy [RCV001074724]|Retinitis pigmentosa 39 [RCV003446324]|Usher syndrome type 2A [RCV000672169]|Usher syndrome type 2A [RCV003446323]|not provided [RCV001377215] Chr1:216251099 [GRCh38]
Chr1:216424441 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2168-1G>C single nucleotide variant Hearing impairment [RCV001526604]|Retinal dystrophy [RCV001075017]|Retinitis pigmentosa 39 [RCV003446334]|Usher syndrome type 2A [RCV000672901]|Usher syndrome type 2A [RCV001829879]|not provided [RCV001092379] Chr1:216247227 [GRCh38]
Chr1:216420569 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) deletion Retinal dystrophy [RCV001074368]|Retinitis pigmentosa 39 [RCV003472149]|Usher syndrome type 2A [RCV000672902]|Usher syndrome type 2A [RCV001276247]|not provided [RCV001047811] Chr1:216078218..216078223 [GRCh38]
Chr1:216251560..216251565 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.15200del (p.Ile5067fs) deletion Retinal dystrophy [RCV001075271]|Retinitis pigmentosa 39 [RCV003453361]|Usher syndrome type 2A [RCV000672982]|Usher syndrome type 2A [RCV003453360]|not provided [RCV001008157] Chr1:215634556 [GRCh38]
Chr1:215807898 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg) single nucleotide variant Usher syndrome type 2A [RCV000673138] Chr1:215650731 [GRCh38]
Chr1:215824073 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003451621]|Usher syndrome type 2A [RCV003451620]|not provided [RCV000658548] Chr1:215867142 [GRCh38]
Chr1:216040484 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) microsatellite Retinitis pigmentosa 39 [RCV003451622]|Retinitis pigmentosa [RCV001199807]|not provided [RCV000658549] Chr1:215877797..215877798 [GRCh38]
Chr1:216051139..216051140 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8917_8918del (p.Leu2973fs) microsatellite Retinitis pigmentosa 39 [RCV003453353]|Usher syndrome type 2A [RCV000672679]|Usher syndrome type 2A [RCV003453352]|not provided [RCV001543490] Chr1:215845961..215845962 [GRCh38]
Chr1:216019303..216019304 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11712-2A>C single nucleotide variant Retinitis pigmentosa 39 [RCV003446331]|Usher syndrome type 2A [RCV000672715]|Usher syndrome type 2A [RCV003446330]|not provided [RCV002532133] Chr1:215728386 [GRCh38]
Chr1:215901728 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) indel Retinal dystrophy [RCV001075239]|Retinitis pigmentosa 39 [RCV003451628]|Usher syndrome type 2A [RCV000664642]|Usher syndrome type 2A [RCV003451627] Chr1:215743321..215743322 [GRCh38]
Chr1:215916663..215916664 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) single nucleotide variant Retinal dystrophy [RCV001075425]|Retinitis pigmentosa 39 [RCV003453362]|Usher syndrome [RCV000826153]|Usher syndrome type 2A [RCV000673272]|Usher syndrome type 2A [RCV001271234]|not provided [RCV001384598] Chr1:216246784 [GRCh38]
Chr1:216420126 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) single nucleotide variant Retinal dystrophy [RCV001074343]|Retinitis pigmentosa 39 [RCV003453364]|Rod-cone dystrophy [RCV002287435]|Usher syndrome type 2A [RCV000673284]|Usher syndrome type 2A [RCV003453363]|not provided [RCV001091126] Chr1:215838092 [GRCh38]
Chr1:216011434 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn) inversion Usher syndrome type 2A [RCV000673311] Chr1:216421894..216421895 [GRCh38]
Chr1:216595236..216595237 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly) insertion Usher syndrome type 2A [RCV000664758] Chr1:216078206..216078207 [GRCh38]
Chr1:216251548..216251549 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6326-3_6332del deletion Usher syndrome type 2A [RCV000670774] Chr1:216000556..216000565 [GRCh38]
Chr1:216173898..216173907 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) single nucleotide variant Retinal dystrophy [RCV001074797]|Retinitis pigmentosa 39 [RCV003453347]|Usher syndrome [RCV002469251]|Usher syndrome type 2A [RCV000672460]|Usher syndrome type 2A [RCV002272322]|not provided [RCV001091135] Chr1:216078262 [GRCh38]
Chr1:216251604 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12602del (p.Gly4201fs) deletion Retinal dystrophy [RCV001073825]|Retinitis pigmentosa 39 [RCV003453351]|Usher syndrome type 2A [RCV000672632]|Usher syndrome type 2A [RCV003453350] Chr1:215675309 [GRCh38]
Chr1:215848651 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.302del (p.Phe101fs) deletion Usher syndrome type 2A [RCV000671165] Chr1:216422035 [GRCh38]
Chr1:216595377 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del) deletion Usher syndrome type 2A [RCV000671302] Chr1:215743289..215743291 [GRCh38]
Chr1:215916631..215916633 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del) deletion Usher syndrome type 2A [RCV000671335] Chr1:215634639..215634641 [GRCh38]
Chr1:215807981..215807983 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del) microsatellite Usher syndrome type 2A [RCV000671345] Chr1:215680312..215680314 [GRCh38]
Chr1:215853654..215853656 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9919T>A (p.Cys3307Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV000661902] Chr1:215798946 [GRCh38]
Chr1:215972288 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9993G>A (p.Met3331Ile) single nucleotide variant not provided [RCV000658547] Chr1:215790248 [GRCh38]
Chr1:215963590 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15353del (p.Asn5118fs) deletion not provided [RCV000658546] Chr1:215628980 [GRCh38]
Chr1:215802322 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) single nucleotide variant Cone-rod dystrophy [RCV001199791]|Retinal dystrophy [RCV001074375]|not provided [RCV000658141] Chr1:216247163 [GRCh38]
Chr1:216420505 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3581C>T (p.Pro1194Leu) single nucleotide variant not provided [RCV000658087] Chr1:216199857 [GRCh38]
Chr1:216373199 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del) deletion Retinitis pigmentosa 39 [RCV003451630]|Usher syndrome type 2A [RCV000664928]|Usher syndrome type 2A [RCV003451629]|not provided [RCV002530641] Chr1:216199840..216199842 [GRCh38]
Chr1:216373182..216373184 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001727790]|Usher syndrome type 2A [RCV000669090]|Usher syndrome type 2A [RCV003453278]|not provided [RCV001861774] Chr1:216251047 [GRCh38]
Chr1:216424389 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3891del (p.Gln1298fs) deletion Usher syndrome type 2A [RCV000670462] Chr1:216198505 [GRCh38]
Chr1:216371847 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14894_14915del (p.Val4965fs) deletion Usher syndrome type 2A [RCV000670198] Chr1:215640611..215640632 [GRCh38]
Chr1:215813953..215813974 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.15037_15043del (p.Thr5013fs) deletion Usher syndrome type 2A [RCV000670327] Chr1:215639164..215639170 [GRCh38]
Chr1:215812506..215812512 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003453311]|Usher syndrome [RCV002265845]|Usher syndrome type 2A [RCV000670856]|Usher syndrome type 2A [RCV003453310] Chr1:215728265 [GRCh38]
Chr1:215901607 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11712-2A>G single nucleotide variant Usher syndrome type 2A [RCV000670898] Chr1:215728386 [GRCh38]
Chr1:215901728 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453316]|Usher syndrome type 2A [RCV000670968]|Usher syndrome type 2A [RCV001004142]|not provided [RCV001388593] Chr1:215674290 [GRCh38]
Chr1:215847632 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) deletion Retinal dystrophy [RCV001073368]|Retinitis pigmentosa 39 [RCV003453321]|Usher syndrome type 2A [RCV000671172]|Usher syndrome type 2A [RCV000986535]|not provided [RCV001060498] Chr1:216083476 [GRCh38]
Chr1:216256818 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13700del (p.Leu4567fs) deletion Retinitis pigmentosa 39 [RCV003459628]|Usher syndrome type 2A [RCV000671566] Chr1:215674211 [GRCh38]
Chr1:215847553 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.146T>A (p.Val49Asp) single nucleotide variant not provided [RCV000658551] Chr1:216422191 [GRCh38]
Chr1:216595533 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15298-18_15301dup duplication Retinitis pigmentosa 39 [RCV003446310]|Usher syndrome type 2A [RCV000669391]|Usher syndrome type 2A [RCV003446309]|not provided [RCV002532088] Chr1:215629031..215629032 [GRCh38]
Chr1:215802373..215802374 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9226_9227del (p.Asp3076fs) microsatellite Usher syndrome type 2A [RCV000669725] Chr1:215844325..215844326 [GRCh38]
Chr1:216017667..216017668 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9453T>A (p.Tyr3151Ter) single nucleotide variant Usher syndrome type 2A [RCV000669839] Chr1:215817114 [GRCh38]
Chr1:215990456 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6675dup (p.Cys2226fs) duplication Usher syndrome type 2A [RCV000671428] Chr1:215993149..215993150 [GRCh38]
Chr1:216166491..216166492 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del) deletion Retinitis pigmentosa 39 [RCV003453325]|Usher syndrome type 2A [RCV000671559]|Usher syndrome type 2A [RCV003453324]|not provided [RCV002531289] Chr1:216422016..216422024 [GRCh38]
Chr1:216595358..216595366 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter) single nucleotide variant Retinal dystrophy [RCV001074600]|Retinitis pigmentosa 39 [RCV003453327]|Usher syndrome type 2A [RCV000671631]|Usher syndrome type 2A [RCV003453326]|not provided [RCV001389150] Chr1:215878765 [GRCh38]
Chr1:216052107 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6672dup (p.Gly2225fs) duplication Retinitis pigmentosa 39 [RCV003453329]|Usher syndrome type 2A [RCV000671635]|Usher syndrome type 2A [RCV003453328]|not provided [RCV001855563] Chr1:215993152..215993153 [GRCh38]
Chr1:216166494..216166495 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453335]|Usher syndrome [RCV001844217]|Usher syndrome type 2A [RCV000671836]|Usher syndrome type 2A [RCV001273701]|not provided [RCV000795361] Chr1:215817098 [GRCh38]
Chr1:215990440 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003453365]|Usher syndrome type 2A [RCV000673512]|Usher syndrome type 2A [RCV001829881]|not provided [RCV001209908]|not specified [RCV002469252] Chr1:216073207 [GRCh38]
Chr1:216246549 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3680dup (p.Cys1228fs) duplication Retinitis pigmentosa 39 [RCV003472158]|Usher syndrome type 2A [RCV000673641] Chr1:216199757..216199758 [GRCh38]
Chr1:216373099..216373100 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11048-2A>G single nucleotide variant Retinal dystrophy [RCV001074654]|Retinitis pigmentosa 39 [RCV002468597]|Usher syndrome type 2A [RCV001810473]|not provided [RCV000821987] Chr1:215759845 [GRCh38]
Chr1:215933187 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del) microsatellite Usher syndrome type 2A [RCV000673926] Chr1:215844458..215844460 [GRCh38]
Chr1:216017800..216017802 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001376203]|Retinitis pigmentosa [RCV001003274]|Usher syndrome type 2A [RCV000666713]|Usher syndrome type 2A [RCV003451652]|not provided [RCV001065685] Chr1:216196630 [GRCh38]
Chr1:216369972 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del) deletion Usher syndrome type 2A [RCV000666746]|not provided [RCV002532056] Chr1:216325407..216325409 [GRCh38]
Chr1:216498749..216498751 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) deletion Retinitis pigmentosa 39 [RCV003451654]|Retinitis pigmentosa [RCV001199785]|Usher syndrome type 2A [RCV000666872]|Usher syndrome type 2A [RCV003451653]|not provided [RCV001061886] Chr1:215671207 [GRCh38]
Chr1:215844549 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del) microsatellite Usher syndrome type 2A [RCV000666975] Chr1:216421917..216421919 [GRCh38]
Chr1:216595259..216595261 [GRCh37]
Chr1:1q41
uncertain significance
Single allele duplication Usher syndrome type 2A [RCV000678026] Chr1:215667901..215927476 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) single nucleotide variant Retinal dystrophy [RCV001074026]|Retinitis pigmentosa 39 [RCV003453312]|Retinitis pigmentosa [RCV001003285]|Usher syndrome type 2A [RCV001810475]|Usher syndrome type 2A [RCV002499175]|not provided [RCV001868247] Chr1:216323543 [GRCh38]
Chr1:216496885 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003453314]|Usher syndrome type 2A [RCV000670865]|Usher syndrome type 2A [RCV003453313]|not provided [RCV001868248] Chr1:216324250 [GRCh38]
Chr1:216497592 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003453320]|Usher syndrome type 2A [RCV000670995]|Usher syndrome type 2A [RCV003453319]|not provided [RCV002284424]|not specified [RCV002265846] Chr1:216078286 [GRCh38]
Chr1:216251628 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15322del (p.Arg5108fs) deletion Retinitis pigmentosa 39 [RCV003453323]|Usher syndrome type 2A [RCV000671255]|Usher syndrome type 2A [RCV003453322]|not provided [RCV002532108] Chr1:215629011 [GRCh38]
Chr1:215802353 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8682-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003459571]|Usher syndrome type 2A [RCV000665425] Chr1:215867171 [GRCh38]
Chr1:216040513 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9055+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446340]|Usher syndrome type 2A [RCV000674124]|Usher syndrome type 2A [RCV003446339]|not provided [RCV001861835] Chr1:215845823 [GRCh38]
Chr1:216019165 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003451675]|Usher syndrome type 2A [RCV000668191]|Usher syndrome type 2A [RCV003451674]|not provided [RCV002532068] Chr1:215970674 [GRCh38]
Chr1:216144016 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) single nucleotide variant Retinal dystrophy [RCV001074791]|Retinitis pigmentosa 39 [RCV003451676]|Usher syndrome type 2A [RCV000668369]|Usher syndrome type 2A [RCV001829846]|not provided [RCV001324976] Chr1:215779930 [GRCh38]
Chr1:215953272 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr) insertion Usher syndrome type 2A [RCV000668436] Chr1:216207338..216207339 [GRCh38]
Chr1:216380680..216380681 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8558+1G>T single nucleotide variant Retinal dystrophy [RCV001075752]|Retinitis pigmentosa 39 [RCV003446316]|Usher syndrome type 2 [RCV001003266]|Usher syndrome type 2A [RCV000671361]|Usher syndrome type 2A [RCV003446315]|not provided [RCV000818929] Chr1:215878763 [GRCh38]
Chr1:216052105 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13094G>A (p.Trp4365Ter) single nucleotide variant Usher syndrome type 2A [RCV000672003] Chr1:215674817 [GRCh38]
Chr1:215848159 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6326-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446322]|Usher syndrome type 2A [RCV000672161]|Usher syndrome type 2A [RCV003446321]|not provided [RCV002531307] Chr1:216000564 [GRCh38]
Chr1:216173906 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2994-2A>G single nucleotide variant Usher syndrome type 2A [RCV000665610] Chr1:216217552 [GRCh38]
Chr1:216390894 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4397-1G>A single nucleotide variant Retinal dystrophy [RCV001075029]|Retinitis pigmentosa 39 [RCV003446295]|USH2A-related condition [RCV003420173]|Usher syndrome type 2A [RCV000665749]|Usher syndrome type 2A [RCV001835072]|not provided [RCV001205806] Chr1:216175483 [GRCh38]
Chr1:216348825 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) deletion Retinal dystrophy [RCV001075673]|Retinitis pigmentosa 39 [RCV003453379]|Usher syndrome type 2A [RCV000674350]|Usher syndrome type 2A [RCV001542724]|not provided [RCV001216609] Chr1:215674703..215674704 [GRCh38]
Chr1:215848045..215848046 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11100_11104del (p.Tyr3701fs) deletion Usher syndrome type 2A [RCV000666805] Chr1:215759787..215759791 [GRCh38]
Chr1:215933129..215933133 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg) single nucleotide variant Usher syndrome type 2A [RCV000668480]|not provided [RCV001377823] Chr1:216292286 [GRCh38]
Chr1:216465628 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del) microsatellite Usher syndrome type 2A [RCV000668698] Chr1:215798939..215798941 [GRCh38]
Chr1:215972281..215972283 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp) single nucleotide variant Usher syndrome type 2A [RCV000672408] Chr1:215817154 [GRCh38]
Chr1:215990496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer) insertion Usher syndrome type 2A [RCV000672562] Chr1:216175357..216175358 [GRCh38]
Chr1:216348699..216348700 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2168-2A>G single nucleotide variant Retinal dystrophy [RCV001073756]|Retinitis pigmentosa 39 [RCV003446327]|Retinitis pigmentosa [RCV002272323]|Usher syndrome type 2A [RCV000672583]|Usher syndrome type 2A [RCV001199965]|not provided [RCV001382734] Chr1:216247228 [GRCh38]
Chr1:216420570 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4818dup (p.Trp1607fs) duplication Retinitis pigmentosa 39 [RCV003453381]|Usher syndrome type 2A [RCV000674380]|Usher syndrome type 2A [RCV003453380]|not provided [RCV002532162] Chr1:216089079..216089080 [GRCh38]
Chr1:216262421..216262422 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003453382]|Usher syndrome type 2A [RCV000674382]|Usher syndrome type 2A [RCV001830463]|not specified [RCV001584546] Chr1:215845865 [GRCh38]
Chr1:216019207 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003453385]|Usher syndrome type 2A [RCV000674537]|Usher syndrome type 2A [RCV003453384]|not provided [RCV001300491] Chr1:216084847 [GRCh38]
Chr1:216258189 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del) deletion Retinitis pigmentosa 39 [RCV003451658]|Retinitis pigmentosa [RCV001724123]|Usher syndrome type 2A [RCV000666974]|Usher syndrome type 2A [RCV003451657] Chr1:215838004..215838027 [GRCh38]
Chr1:216011346..216011369 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13811+1G>A single nucleotide variant Retinal dystrophy [RCV001073725]|Retinitis pigmentosa 39 [RCV003446336]|Usher syndrome type 2A [RCV000672985]|Usher syndrome type 2A [RCV003446335]|not provided [RCV001231260] Chr1:215674099 [GRCh38]
Chr1:215847441 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.15412C>T (p.Gln5138Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003465523]|Usher syndrome type 2A [RCV000673159] Chr1:215628921 [GRCh38]
Chr1:215802263 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11328T>A (p.Tyr3776Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003451624]|Usher syndrome type 2A [RCV000664530]|Usher syndrome type 2A [RCV003451623]|not provided [RCV001247302] Chr1:215758656 [GRCh38]
Chr1:215931998 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13172_13175del (p.Val4391fs) microsatellite Usher syndrome type 2A [RCV000674765] Chr1:215674736..215674739 [GRCh38]
Chr1:215848078..215848081 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.419C>A (p.Pro140His) single nucleotide variant Usher syndrome type 2A [RCV000674822] Chr1:216421918 [GRCh38]
Chr1:216595260 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn) single nucleotide variant Usher syndrome type 2A [RCV000674831]|not provided [RCV001230929] Chr1:215782125 [GRCh38]
Chr1:215955467 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11290dup (p.Ile3764fs) duplication Usher syndrome type 2A [RCV000667246] Chr1:215758693..215758694 [GRCh38]
Chr1:215932035..215932036 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003451626]|Usher syndrome type 2A [RCV000664639]|Usher syndrome type 2A [RCV003451625]|not provided [RCV001868195] Chr1:216246777 [GRCh38]
Chr1:216420119 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5572+1G>A single nucleotide variant Retinal dystrophy [RCV001073564]|Retinitis pigmentosa 39 [RCV003446294]|Usher syndrome type 2A [RCV000664714]|Usher syndrome type 2A [RCV001835904]|not provided [RCV000815036] Chr1:216078088 [GRCh38]
Chr1:216251430 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10388-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446338]|Usher syndrome type 2A [RCV000673642]|Usher syndrome type 2A [RCV003446337]|not provided [RCV002531341] Chr1:215782936 [GRCh38]
Chr1:215956278 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7531del (p.Val2511fs) deletion Usher syndrome type 2A [RCV000669181] Chr1:215900138 [GRCh38]
Chr1:216073480 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr) single nucleotide variant Usher syndrome type 2A [RCV000669285]|not provided [RCV001055911] Chr1:215782858 [GRCh38]
Chr1:215956200 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) single nucleotide variant Usher syndrome [RCV001797778]|Usher syndrome type 2A [RCV000669584]|Usher syndrome type 2A [RCV001829859]|not provided [RCV001058017] Chr1:216418627 [GRCh38]
Chr1:216591969 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance|no classifications from unflagged records
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del) microsatellite Usher syndrome type 2A [RCV000669609] Chr1:215639232..215639234 [GRCh38]
Chr1:215812574..215812576 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) single nucleotide variant Retinal dystrophy [RCV001074211]|Retinitis pigmentosa 39 [RCV001376262]|Retinitis pigmentosa [RCV001003255]|Usher syndrome type 2A [RCV000669731]|Usher syndrome type 2A [RCV003313971]|not provided [RCV001244688] Chr1:215674572 [GRCh38]
Chr1:215847914 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) single nucleotide variant Retinal dystrophy [RCV001074508]|Retinitis pigmentosa 39 [RCV003453292]|Usher syndrome type 2A [RCV000669826]|Usher syndrome type 2A [RCV003453291]|not provided [RCV001380767] Chr1:215670974 [GRCh38]
Chr1:215844316 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9191del (p.Thr3064fs) deletion Usher syndrome type 2A [RCV000670103] Chr1:215844361 [GRCh38]
Chr1:216017703 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12859_12863del (p.Pro4287fs) deletion Usher syndrome type 2A [RCV000673852] Chr1:215675048..215675052 [GRCh38]
Chr1:215848390..215848394 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13337delinsGTC (p.Asn4446fs) indel Usher syndrome type 2A [RCV000673896] Chr1:215674574 [GRCh38]
Chr1:215847916 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) single nucleotide variant Leber congenital amaurosis [RCV000754979]|Retinitis pigmentosa 39 [RCV003451660]|Usher syndrome type 2A [RCV000667613]|Usher syndrome type 2A [RCV001835082]|not provided [RCV001246671]|not specified [RCV001805789] Chr1:215965376 [GRCh38]
Chr1:216138718 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal) deletion Usher syndrome type 2A [RCV000670713] Chr1:215759793..215759795 [GRCh38]
Chr1:215933135..215933137 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453315]|Usher syndrome type 2A [RCV000670876]|Usher syndrome type 2A [RCV001830449]|not provided [RCV001381383] Chr1:215844433 [GRCh38]
Chr1:216017775 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg) single nucleotide variant Usher syndrome type 2A [RCV000670887] Chr1:215675105 [GRCh38]
Chr1:215848447 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) deletion Retinal dystrophy [RCV001074867]|Retinitis pigmentosa 39 [RCV003453318]|Retinitis pigmentosa [RCV001724127]|Usher syndrome type 2A [RCV000670974]|Usher syndrome type 2A [RCV003453317]|not provided [RCV001039305] Chr1:215639229..215639230 [GRCh38]
Chr1:215812571..215812572 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) single nucleotide variant Retinal dystrophy [RCV001074307]|Retinitis pigmentosa 39 [RCV003459622]|Usher syndrome type 2A [RCV000671207]|not provided [RCV002531272] Chr1:215888778 [GRCh38]
Chr1:216062120 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003451632]|Usher syndrome type 2A [RCV000665126]|Usher syndrome type 2A [RCV003451631]|not provided [RCV002530645] Chr1:216198326 [GRCh38]
Chr1:216371668 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) single nucleotide variant Retinal dystrophy [RCV001075434]|Retinitis pigmentosa 39 [RCV001376385]|Retinitis pigmentosa [RCV000778220]|Usher syndrome type 2A [RCV001098933]|not provided [RCV001244238]|not specified [RCV001731856] Chr1:216246741 [GRCh38]
Chr1:216420083 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) single nucleotide variant Retinal dystrophy [RCV001073769]|Retinitis pigmentosa 39 [RCV003459568]|Usher syndrome [RCV001731858]|Usher syndrome type 2A [RCV001810466]|not provided [RCV002530650] Chr1:216175263 [GRCh38]
Chr1:216348605 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del) deletion Usher syndrome type 2A [RCV000673936] Chr1:215629000..215629002 [GRCh38]
Chr1:215802342..215802344 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) single nucleotide variant Retinal dystrophy [RCV001073625]|Retinitis pigmentosa 39 [RCV003451640]|Usher syndrome type 2A [RCV000665436]|Usher syndrome type 2A [RCV003451639] Chr1:216089088 [GRCh38]
Chr1:216262430 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer) deletion Retinitis pigmentosa 39 [RCV003453375]|Usher syndrome type 2A [RCV000674037]|Usher syndrome type 2A [RCV003453374]|not provided [RCV001868275] Chr1:216246778 [GRCh38]
Chr1:216420120 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4081+2T>C single nucleotide variant Usher syndrome type 2A [RCV000670108] Chr1:216198313 [GRCh38]
Chr1:216371655 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del) deletion Retinitis pigmentosa 39 [RCV003453298]|Usher syndrome type 2A [RCV000670294]|Usher syndrome type 2A [RCV003453297]|not provided [RCV002532098] Chr1:216046587..216046589 [GRCh38]
Chr1:216219929..216219931 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8682-2A>C single nucleotide variant Retinitis pigmentosa 39 [RCV003446313]|Usher syndrome type 2A [RCV000670330]|Usher syndrome type 2A [RCV003446312]|not provided [RCV001377278] Chr1:215867172 [GRCh38]
Chr1:216040514 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14965_14968dup (p.Thr4990fs) duplication Usher syndrome type 2A [RCV000670469] Chr1:215640557..215640558 [GRCh38]
Chr1:215813899..215813900 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10525A>T (p.Lys3509Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453309]|Usher syndrome type 2A [RCV000670682]|Usher syndrome type 2A [RCV003453308]|not provided [RCV001383884] Chr1:215782798 [GRCh38]
Chr1:215956140 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del) microsatellite Usher syndrome type 2A [RCV000673768] Chr1:216207385..216207387 [GRCh38]
Chr1:216380727..216380729 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) single nucleotide variant Retinal dystrophy [RCV001075535]|Retinitis pigmentosa 39 [RCV001376439]|Usher syndrome type 2A [RCV000673923]|Usher syndrome type 2A [RCV003453369]|not provided [RCV001212324] Chr1:215671283 [GRCh38]
Chr1:215844625 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) single nucleotide variant Retinal dystrophy [RCV001074493]|Retinitis pigmentosa 39 [RCV003465441]|USH2A-related condition [RCV003424268]|Usher syndrome type 2A [RCV000665398]|not provided [RCV002530654]|not specified [RCV002233096] Chr1:216325451 [GRCh38]
Chr1:216498793 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|uncertain significance
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453373]|Usher syndrome type 2A [RCV000673985]|Usher syndrome type 2A [RCV003453372]|not provided [RCV001861829] Chr1:215867018 [GRCh38]
Chr1:216040360 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) single nucleotide variant Retinal dystrophy [RCV001075120]|Retinitis pigmentosa 39 [RCV003451636]|Usher syndrome type 2A [RCV000665421]|Usher syndrome type 2A [RCV001835071]|not provided [RCV001248207] Chr1:215674133 [GRCh38]
Chr1:215847475 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003451638]|Usher syndrome type 2A [RCV000665426]|Usher syndrome type 2A [RCV003451637]|not provided [RCV001868202]|not specified [RCV001731860] Chr1:215674247 [GRCh38]
Chr1:215847589 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10179del (p.Met3393fs) deletion Usher syndrome type 2A [RCV000667456] Chr1:215790062 [GRCh38]
Chr1:215963404 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) single nucleotide variant Retinal dystrophy [RCV001075062]|Retinitis pigmentosa 39 [RCV003459585]|Usher syndrome type 2 [RCV001003286]|Usher syndrome type 2A [RCV000667534]|Usher syndrome type 2A [RCV001835907]|not provided [RCV001382060] Chr1:216325447 [GRCh38]
Chr1:216498789 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del) microsatellite Usher syndrome type 2A [RCV000667560] Chr1:216321936..216321938 [GRCh38]
Chr1:216495278..216495280 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His) single nucleotide variant Retinitis pigmentosa 39 [RCV003459629]|Usher syndrome type 2A [RCV000671650]|not provided [RCV001366543] Chr1:215844294 [GRCh38]
Chr1:216017636 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5499_5511del (p.Asn1834fs) deletion Usher syndrome type 2A [RCV000671851] Chr1:216078150..216078162 [GRCh38]
Chr1:216251492..216251504 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7594+2del deletion Retinitis pigmentosa 39 [RCV003446320]|Usher syndrome type 2A [RCV000671885]|Usher syndrome type 2A [RCV003446319]|not provided [RCV001868257] Chr1:215900073 [GRCh38]
Chr1:216073415 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7595-1G>A single nucleotide variant Usher syndrome type 2A [RCV000671968] Chr1:215889055 [GRCh38]
Chr1:216062397 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6805+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446342]|Usher syndrome type 2A [RCV000674125]|Usher syndrome type 2A [RCV003446341]|not provided [RCV001380331] Chr1:215993019 [GRCh38]
Chr1:216166361 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453377]|Usher syndrome type 2A [RCV000674173]|Usher syndrome type 2A [RCV003453376]|not provided [RCV001868279] Chr1:215799003 [GRCh38]
Chr1:215972345 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del) deletion Usher syndrome type 2A [RCV000674214] Chr1:215680296..215680304 [GRCh38]
Chr1:215853638..215853646 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5083del (p.Ser1695fs) deletion Retinitis pigmentosa 39 [RCV002285397]|Usher syndrome type 2A [RCV000674272]|Usher syndrome type 2A [RCV003453378]|not provided [RCV001380622] Chr1:216084782 [GRCh38]
Chr1:216258124 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10586-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446297]|Usher syndrome type 2A [RCV000665854]|Usher syndrome type 2A [RCV003446296]|not provided [RCV001861747] Chr1:215782198 [GRCh38]
Chr1:215955540 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) single nucleotide variant Retinal dystrophy [RCV001073924]|Retinitis pigmentosa 39 [RCV003451662]|Usher syndrome type 2A [RCV000667787]|Usher syndrome type 2A [RCV001271239]|not provided [RCV001067227] Chr1:216292291 [GRCh38]
Chr1:216465633 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val) single nucleotide variant Retinitis pigmentosa 39 [RCV002066976]|Usher syndrome type 2A [RCV000667796]|Usher syndrome type 2A [RCV003451665]|not provided [RCV001855488] Chr1:216217458 [GRCh38]
Chr1:216390800 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) single nucleotide variant Retinal dystrophy [RCV001075428]|Retinitis pigmentosa 39 [RCV003451666]|USH2A-related condition [RCV003420180]|Usher syndrome type 2A [RCV000667892]|Usher syndrome type 2A [RCV001276250]|not provided [RCV001067077] Chr1:216084698 [GRCh38]
Chr1:216258040 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003451667]|Usher syndrome type 2A [RCV000667897]|Usher syndrome type 2A [RCV001835085]|not provided [RCV000994250] Chr1:216199714 [GRCh38]
Chr1:216373056 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003451668]|Usher syndrome type 2A [RCV000667916]|Usher syndrome type 2A [RCV001835086]|not provided [RCV001243045]|not specified [RCV003226354] Chr1:215798943 [GRCh38]
Chr1:215972285 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter) single nucleotide variant Usher syndrome type 2 [RCV001003251]|Usher syndrome type 2A [RCV000667924] Chr1:215648686 [GRCh38]
Chr1:215822028 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003451670]|Usher syndrome type 2A [RCV000667934]|Usher syndrome type 2A [RCV003451669]|not provided [RCV002530730]|not specified [RCV001844213] Chr1:216422131 [GRCh38]
Chr1:216595473 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser) single nucleotide variant Usher syndrome type 2A [RCV000667953] Chr1:215817002 [GRCh38]
Chr1:215990344 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7620del (p.Leu2541fs) deletion Retinitis pigmentosa 39 [RCV003451672]|Usher syndrome type 2A [RCV000667964]|Usher syndrome type 2A [RCV003451671]|not provided [RCV001247351] Chr1:215889029 [GRCh38]
Chr1:216062371 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8682-17A>G single nucleotide variant Usher syndrome type 2A [RCV000672655] Chr1:215867187 [GRCh38]
Chr1:216040529 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6178dup (p.Gln2060fs) duplication Retinitis pigmentosa 39 [RCV003453355]|Usher syndrome type 2A [RCV000672707]|Usher syndrome type 2A [RCV003453354]|not provided [RCV001380295] Chr1:216046577..216046578 [GRCh38]
Chr1:216219919..216219920 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6485+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446333]|Usher syndrome type 2A [RCV000672769]|Usher syndrome type 2A [RCV003446332]|not provided [RCV001861813] Chr1:216000402 [GRCh38]
Chr1:216173744 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) single nucleotide variant Retinal dystrophy [RCV001074678]|Retinitis pigmentosa 39 [RCV003453356]|Usher syndrome type 2A [RCV000672792]|Usher syndrome type 2A [RCV001835910]|not provided [RCV001037535] Chr1:216422150 [GRCh38]
Chr1:216595492 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11703del (p.Phe3901fs) deletion Usher syndrome type 2A [RCV000674858] Chr1:215741383 [GRCh38]
Chr1:215914725 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9258+1G>T single nucleotide variant Retinal dystrophy [RCV001075805]|Retinitis pigmentosa 39 [RCV003446318]|Usher syndrome [RCV003230570]|Usher syndrome type 2A [RCV000671455]|Usher syndrome type 2A [RCV003446317]|not provided [RCV001855560] Chr1:215844293 [GRCh38]
Chr1:216017635 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu) single nucleotide variant Usher syndrome type 2A [RCV000671864] Chr1:216097162 [GRCh38]
Chr1:216270504 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11390-2del deletion Usher syndrome type 2A [RCV000671887]|not provided [RCV002060824] Chr1:215743337 [GRCh38]
Chr1:215916679 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5883_5884del (p.Arg1962fs) deletion Usher syndrome type 2A [RCV000665759] Chr1:216070266..216070267 [GRCh38]
Chr1:216243608..216243609 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe) single nucleotide variant Usher syndrome type 2A [RCV000674381] Chr1:215888586 [GRCh38]
Chr1:216061928 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6709G>T (p.Asp2237Tyr) single nucleotide variant Usher syndrome type 2A [RCV000665859] Chr1:215993116 [GRCh38]
Chr1:216166458 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu) duplication Usher syndrome type 2A [RCV000674534] Chr1:216246983..216246984 [GRCh38]
Chr1:216420325..216420326 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003459575]|Usher syndrome type 2A [RCV000666031]|Usher syndrome type 2A [RCV001273694]|not provided [RCV001035468] Chr1:215779923 [GRCh38]
Chr1:215953265 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly) indel Usher syndrome type 2A [RCV000668024] Chr1:215675173..215675174 [GRCh38]
Chr1:215848515..215848516 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del) deletion Usher syndrome type 2A [RCV000668064] Chr1:215879058..215879060 [GRCh38]
Chr1:216052400..216052402 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) single nucleotide variant Retinal dystrophy [RCV001075316]|Retinitis pigmentosa 39 [RCV001376349]|Usher syndrome [RCV001797777]|Usher syndrome type 2A [RCV001810471]|not provided [RCV001230842] Chr1:216323474 [GRCh38]
Chr1:216496816 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) duplication Retinitis pigmentosa 39 [RCV003451673]|Usher syndrome [RCV002298727]|Usher syndrome type 2 [RCV001003291]|Usher syndrome type 2A [RCV000668189]|Usher syndrome type 2A [RCV001835908]|not provided [RCV001389817] Chr1:216422097..216422098 [GRCh38]
Chr1:216595439..216595440 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003472065]|USH2A-related condition [RCV003403532]|Usher syndrome [RCV001171545]|Usher syndrome type 2A [RCV000664581]|Usher syndrome type 2A [RCV000761343]|not provided [RCV001208650] Chr1:216289392 [GRCh38]
Chr1:216462734 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.14969-1G>A single nucleotide variant Usher syndrome type 2A [RCV000664876] Chr1:215639239 [GRCh38]
Chr1:215812581 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6708_6717del (p.Asp2237fs) deletion Usher syndrome type 2A [RCV000673506] Chr1:215993108..215993117 [GRCh38]
Chr1:216166450..216166459 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3494_3495del (p.Val1165fs) microsatellite Usher syndrome type 2A [RCV000664904] Chr1:216199943..216199944 [GRCh38]
Chr1:216373285..216373286 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4988-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446299]|Usher syndrome type 2A [RCV000666589]|Usher syndrome type 2A [RCV003446298]|not provided [RCV002530692] Chr1:216084879 [GRCh38]
Chr1:216258221 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1808G>A (p.Gly603Glu) single nucleotide variant Usher syndrome type 2A [RCV000678647] Chr1:216292207 [GRCh38]
Chr1:216465549 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV002283505]|Retinitis pigmentosa [RCV001724131]|Usher syndrome [RCV002469254]|Usher syndrome type 2A [RCV000678653]|not provided [RCV001042036] Chr1:215993103 [GRCh38]
Chr1:216166445 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) single nucleotide variant Ear malformation [RCV001814216]|Retinitis pigmentosa 39 [RCV003459648]|Usher syndrome type 2A [RCV000678655] Chr1:215900168 [GRCh38]
Chr1:216073510 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7568G>A (p.Trp2523Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453343]|Usher syndrome type 2A [RCV000672102]|Usher syndrome type 2A [RCV003453342]|not provided [RCV001231865] Chr1:215900101 [GRCh38]
Chr1:216073443 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11231+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446326]|Usher syndrome type 2A [RCV000672187]|Usher syndrome type 2A [RCV003446325]|not provided [RCV002531309] Chr1:215759659 [GRCh38]
Chr1:215933001 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) deletion Retinal dystrophy [RCV001073226]|Retinitis pigmentosa 39 [RCV003453346]|Usher syndrome type 2A [RCV000672318]|Usher syndrome type 2A [RCV001829876]|not provided [RCV001008088] Chr1:216418619..216418620 [GRCh38]
Chr1:216591961..216591962 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003451644]|Usher syndrome type 2A [RCV000666202]|Usher syndrome type 2A [RCV003451643]|not provided [RCV001855454]|not specified [RCV002222587] Chr1:215782148 [GRCh38]
Chr1:215955490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453389]|USH2A-related condition [RCV003403567]|Usher syndrome [RCV003389481]|Usher syndrome type 2A [RCV000674780]|Usher syndrome type 2A [RCV001829884]|not provided [RCV000797378] Chr1:215965470 [GRCh38]
Chr1:216138812 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13985del (p.Gln4662fs) deletion Retinitis pigmentosa 39 [RCV003451678]|Usher syndrome type 2A [RCV000668504]|Usher syndrome type 2A [RCV003451677]|not provided [RCV001855500] Chr1:215671120 [GRCh38]
Chr1:215844462 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.15380del (p.Pro5127fs) deletion Retinitis pigmentosa 39 [RCV003451656]|Usher syndrome type 2A [RCV000666901]|Usher syndrome type 2A [RCV003451655]|not provided [RCV002530700] Chr1:215628953 [GRCh38]
Chr1:215802295 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala) single nucleotide variant Usher syndrome type 2A [RCV000668747] Chr1:215900864 [GRCh38]
Chr1:216074206 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser) single nucleotide variant Cone-rod dystrophy [RCV000678658]|not provided [RCV002532182] Chr1:215867010 [GRCh38]
Chr1:216040352 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11389+1del deletion Retinitis pigmentosa 39 [RCV003446344]|Usher syndrome type 2A [RCV000674803]|Usher syndrome type 2A [RCV003446343]|not provided [RCV001208780] Chr1:215758594 [GRCh38]
Chr1:215931936 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) single nucleotide variant Retinal dystrophy [RCV001073487]|Usher syndrome type 2A [RCV000666327]|not provided [RCV001377824] Chr1:216323634 [GRCh38]
Chr1:216496976 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8846-1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446346]|Retinitis pigmentosa [RCV001724130]|Usher syndrome type 2A [RCV000674857]|Usher syndrome type 2A [RCV003446345]|not provided [RCV002531363] Chr1:215846034 [GRCh38]
Chr1:216019376 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003451645]|Retinitis pigmentosa [RCV001101109]|Usher syndrome type 2A [RCV000666371]|Usher syndrome type 2A [RCV001101108]|not provided [RCV001302702]|not specified [RCV003330879] Chr1:216292337 [GRCh38]
Chr1:216465679 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) deletion Retinitis pigmentosa 39 [RCV003223665]|USH2A-related condition [RCV003411586]|Usher syndrome type 2A [RCV000674880]|Usher syndrome type 2A [RCV000985058]|not provided [RCV000734827] Chr1:215674796..215674799 [GRCh38]
Chr1:215848138..215848141 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg) single nucleotide variant Retinal dystrophy [RCV001075854]|Retinitis pigmentosa 39 [RCV000678645]|Usher syndrome type 2A [RCV000668551]|not provided [RCV001855501] Chr1:215648726 [GRCh38]
Chr1:215822068 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln) deletion Retinitis pigmentosa 39 [RCV003451680]|Usher syndrome type 2A [RCV000668580]|Usher syndrome type 2A [RCV003451679]|not provided [RCV001861768] Chr1:215817038..215817040 [GRCh38]
Chr1:215990380..215990382 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8846-2A>G single nucleotide variant Usher syndrome type 2A [RCV000668753] Chr1:215846035 [GRCh38]
Chr1:216019377 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3158-47_3158-17del deletion Usher syndrome type 2A [RCV000674218] Chr1:216207448..216207478 [GRCh38]
Chr1:216380790..216380820 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003459644]|Usher syndrome type 2A [RCV000674232]|Usher syndrome type 2A [RCV001830462]|not provided [RCV001300495] Chr1:216422105 [GRCh38]
Chr1:216595447 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.14402_14403del (p.Tyr4801fs) deletion Retinitis pigmentosa 39 [RCV003453349]|Usher syndrome type 2A [RCV000672574]|Usher syndrome type 2A [RCV003453348]|not provided [RCV001855580] Chr1:215648707..215648708 [GRCh38]
Chr1:215822049..215822050 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4886-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446329]|Usher syndrome type 2A [RCV000672653]|Usher syndrome type 2A [RCV003446328]|not provided [RCV001377692] Chr1:216086821 [GRCh38]
Chr1:216260163 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del) deletion Usher syndrome type 2A [RCV000666472] Chr1:216246948..216246959 [GRCh38]
Chr1:216420290..216420301 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453366]|Usher syndrome type 2A [RCV001810480]|not provided [RCV002531342]|not specified [RCV002271562] Chr1:215671088 [GRCh38]
Chr1:215844430 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003453391]|Usher syndrome type 2A [RCV000674903]|Usher syndrome type 2A [RCV003453390]|not provided [RCV001855615] Chr1:216325306 [GRCh38]
Chr1:216498648 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13811+2T>C single nucleotide variant Usher syndrome type 2A [RCV000672770] Chr1:215674098 [GRCh38]
Chr1:215847440 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453359]|Usher syndrome [RCV003389479]|Usher syndrome type 2A [RCV000672888]|Usher syndrome type 2A [RCV001271229]|not provided [RCV001047995] Chr1:216198513 [GRCh38]
Chr1:216371855 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10317_10318delinsT (p.Ile3440fs) indel Retinitis pigmentosa 39 [RCV003465522]|Usher syndrome type 2A [RCV000672965] Chr1:215786739..215786740 [GRCh38]
Chr1:215960081..215960082 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14139_14152del (p.Trp4713fs) deletion Retinitis pigmentosa 39 [RCV003459580]|Usher syndrome type 2A [RCV000666562] Chr1:215650783..215650796 [GRCh38]
Chr1:215824125..215824138 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg) single nucleotide variant Retinal dystrophy [RCV001075394]|Retinitis pigmentosa 39 [RCV003453368]|Usher syndrome type 2A [RCV000673865]|Usher syndrome type 2A [RCV003453367]|not provided [RCV001861824] Chr1:215782146 [GRCh38]
Chr1:215955488 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6810del (p.Ile2271fs) deletion Usher syndrome type 2A [RCV000673897] Chr1:215970772 [GRCh38]
Chr1:216144114 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser) single nucleotide variant Usher syndrome type 2A [RCV000665320]|Usher syndrome type 2A [RCV001276955]|not provided [RCV001058364]|not specified [RCV000825851] Chr1:215798994 [GRCh38]
Chr1:215972336 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del) microsatellite Retinal dystrophy [RCV001075401]|Retinitis pigmentosa 39 [RCV003453371]|Usher syndrome type 2A [RCV000673940]|Usher syndrome type 2A [RCV003453370] Chr1:216247080..216247082 [GRCh38]
Chr1:216420422..216420424 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8391del (p.Gly2799fs) deletion Retinitis pigmentosa 39 [RCV003465533]|Usher syndrome type 2A [RCV000673948] Chr1:215878931 [GRCh38]
Chr1:216052273 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile) single nucleotide variant Usher syndrome type 2A [RCV000674042] Chr1:216325528 [GRCh38]
Chr1:216498870 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003459581]|Usher syndrome type 2A [RCV000666580]|not provided [RCV001227344] Chr1:216323483 [GRCh38]
Chr1:216496825 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.13812-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446292]|Usher syndrome type 2A [RCV000664526]|Usher syndrome type 2A [RCV003446291]|not provided [RCV001868194] Chr1:215671294 [GRCh38]
Chr1:215844636 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003472152]|Usher syndrome type 2A [RCV000673184]|not provided [RCV001376749] Chr1:215675331 [GRCh38]
Chr1:215848673 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.14582+1G>C single nucleotide variant Retinal dystrophy [RCV001075758]|Retinitis pigmentosa 39 [RCV001376398]|Usher syndrome type 2A [RCV000664550]|Usher syndrome type 2A [RCV003446293] Chr1:215648527 [GRCh38]
Chr1:215821869 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003453383]|Retinitis pigmentosa [RCV001003250]|Usher syndrome type 2A [RCV000674387]|Usher syndrome type 2A [RCV001829883]|not provided [RCV001047727]|not specified [RCV002271563] Chr1:215648540 [GRCh38]
Chr1:215821882 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003453386]|Usher syndrome type 2A [RCV000674697]|Usher syndrome type 2A [RCV002272325]|not provided [RCV001756142] Chr1:216084814 [GRCh38]
Chr1:216258156 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003451651]|Usher syndrome type 2A [RCV000666683]|Usher syndrome type 2A [RCV003451650] Chr1:215888884 [GRCh38]
Chr1:216062226 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV002468596]|Usher syndrome type 2A [RCV000666765]|Usher syndrome type 2A [RCV001841851]|not provided [RCV000760349] Chr1:216327611 [GRCh38]
Chr1:216500953 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1965T>G (p.Cys655Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV000678648] Chr1:216289286 [GRCh38]
Chr1:216462628 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4036G>A (p.Gly1346Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV000678651]|not provided [RCV001868295] Chr1:216198360 [GRCh38]
Chr1:216371702 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV000678654] Chr1:215970656 [GRCh38]
Chr1:216143998 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV000678657]|Usher syndrome type 2A [RCV002485567]|Usher syndrome type 2A [RCV003453396]|not provided [RCV001724132] Chr1:215888698 [GRCh38]
Chr1:216062040 [GRCh37]
Chr1:1q41
uncertain significance|no classifications from unflagged records
NM_206933.4(USH2A):c.10109G>T (p.Cys3370Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV000678641] Chr1:215790132 [GRCh38]
Chr1:215963474 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr) single nucleotide variant Usher syndrome type 2A [RCV000664717] Chr1:215790090 [GRCh38]
Chr1:215963432 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11431_11434del (p.Leu3811fs) deletion Retinitis pigmentosa 39 [RCV003453388]|Usher syndrome type 2A [RCV000674769]|Usher syndrome type 2A [RCV003453387]|not provided [RCV001042038] Chr1:215743291..215743294 [GRCh38]
Chr1:215916633..215916636 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV001376260]|Usher syndrome type 2A [RCV000674954]|Usher syndrome type 2A [RCV003453392]|not provided [RCV001725194] Chr1:215838007 [GRCh38]
Chr1:216011349 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451647]|Usher syndrome type 2A [RCV000666463]|Usher syndrome type 2A [RCV003451646]|not specified [RCV003330880] Chr1:216246618 [GRCh38]
Chr1:216419960 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15052+1G>A single nucleotide variant Usher syndrome type 2A [RCV000667083] Chr1:215639154 [GRCh38]
Chr1:215812496 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) single nucleotide variant Retinal dystrophy [RCV001075374]|Retinitis pigmentosa 39 [RCV003465473]|Usher syndrome type 2A [RCV000667292]|Usher syndrome type 2A [RCV001004140]|not provided [RCV001059699] Chr1:215634578 [GRCh38]
Chr1:215807920 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10842_10845del (p.Glu3614fs) deletion Usher syndrome type 2A [RCV000667309] Chr1:215779937..215779940 [GRCh38]
Chr1:215953279..215953282 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8638_8641del (p.Tyr2880fs) microsatellite Usher syndrome type 2A [RCV000667358] Chr1:215877798..215877801 [GRCh38]
Chr1:216051140..216051143 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) single nucleotide variant Retinal dystrophy [RCV001073347]|Usher syndrome type 2A [RCV000665011]|Usher syndrome type 2A [RCV001835069]|not provided [RCV000924302] Chr1:215675121 [GRCh38]
Chr1:215848463 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14344-1G>A single nucleotide variant Usher syndrome type 2A [RCV000673678] Chr1:215648767 [GRCh38]
Chr1:215822109 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003459567]|Retinitis pigmentosa [RCV001003257]|Usher syndrome type 2A [RCV001810465]|not provided [RCV001245259] Chr1:215680175 [GRCh38]
Chr1:215853517 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) microsatellite Retinal dystrophy [RCV001075039]|Retinitis pigmentosa 39 [RCV003451649]|Usher syndrome type 2A [RCV000666607]|Usher syndrome type 2A [RCV003451648] Chr1:216323503..216323505 [GRCh38]
Chr1:216496845..216496847 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003451659]|Retinitis pigmentosa [RCV001003275]|Usher syndrome type 2A [RCV000667571]|Usher syndrome type 2A [RCV001100918]|not provided [RCV001592848] Chr1:216207413 [GRCh38]
Chr1:216380755 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn) single nucleotide variant Usher syndrome type 2A [RCV000667675]|not provided [RCV001861760] Chr1:215845838 [GRCh38]
Chr1:216019180 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2167+5G>A single nucleotide variant Retinal dystrophy [RCV001073540]|Retinitis pigmentosa 39 [RCV001376264]|Retinitis pigmentosa [RCV001003280]|Usher syndrome [RCV002509496]|Usher syndrome type 2A [RCV000667707]|Usher syndrome type 2A [RCV001829844]|not provided [RCV001035076] Chr1:216250898 [GRCh38]
Chr1:216424240 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) deletion Retinal dystrophy [RCV001074715]|Retinitis pigmentosa 39 [RCV001376335]|Usher syndrome type 2A [RCV000667768]|Usher syndrome type 2A [RCV003451661]|not provided [RCV001066145] Chr1:216199849 [GRCh38]
Chr1:216373191 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451664]|Usher syndrome type 2A [RCV000667788]|Usher syndrome type 2A [RCV003451663]|not provided [RCV001861761] Chr1:215640612 [GRCh38]
Chr1:215813954 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3661C>T (p.Gln1221Ter) single nucleotide variant Deafness [RCV000679847]|Hearing loss, autosomal recessive [RCV001291497]|Retinitis pigmentosa 39 [RCV003459653]|not provided [RCV001068678] Chr1:216199777 [GRCh38]
Chr1:216373119 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1316T>C (p.Leu439Pro) single nucleotide variant Usher syndrome type 2A [RCV000678983] Chr1:216324180 [GRCh38]
Chr1:216497522 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12151G>T (p.Glu4051Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003465549]|Usher syndrome type 2A [RCV000680443]|not provided [RCV001383777] Chr1:215680292 [GRCh38]
Chr1:215853634 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
GRCh37/hg19 1q41(chr1:216405003-216565051)x1 copy number loss not provided [RCV000684697] Chr1:216405003..216565051 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2:c.(784+1_785-1)_(5572+1_5573-1)dup duplication Usher syndrome, type 2A [RCV000678637] Chr1:1q41 pathogenic
NM_206933.2:c.(4578+1_4759-1)_(5298+1_5299-1)del deletion Retinitis pigmentosa 39 [RCV000678636] Chr1:1q41 pathogenic
NM_206933.4(USH2A):c.11047+10C>A single nucleotide variant not provided [RCV001412322] Chr1:215766671 [GRCh38]
Chr1:215940013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del deletion Retinitis pigmentosa 39 [RCV000678636] Chr1:216083455..216089140 [GRCh38]
Chr1:216256797..216262482 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup duplication Usher syndrome type 2A [RCV000678637] Chr1:216078088..216327655 [GRCh38]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6485+208T>C single nucleotide variant not provided [RCV001565717] Chr1:216000195 [GRCh38]
Chr1:216173537 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) single nucleotide variant Retinal dystrophy [RCV001073915]|Retinitis pigmentosa 39 [RCV003455049]|Retinitis pigmentosa [RCV001003278]|Usher syndrome [RCV003226415]|Usher syndrome type 2A [RCV001832324]|Usher syndrome type 2A [RCV002489511]|not provided [RCV001040831] Chr1:216247098 [GRCh38]
Chr1:216420440 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) single nucleotide variant Retinal dystrophy [RCV001074957]|Usher syndrome type 2 [RCV001003283] Chr1:216292175 [GRCh38]
Chr1:216465517 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.377del (p.Ser126fs) deletion Retinitis pigmentosa [RCV001003290] Chr1:216421960 [GRCh38]
Chr1:216595302 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV001579151]|Usher syndrome type 2A [RCV001579150]|not provided [RCV001882694] Chr1:215675427 [GRCh38]
Chr1:215848769 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV001578958]|Usher syndrome type 2A [RCV001578957]|Usher syndrome type 2A [RCV002506685]|not provided [RCV001866088] Chr1:215648568 [GRCh38]
Chr1:215821910 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV001578968]|Usher syndrome type 2A [RCV001578967] Chr1:216292183 [GRCh38]
Chr1:216465525 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro) single nucleotide variant Hearing impairment [RCV001375136]|Retinitis pigmentosa 39 [RCV001593221]|Usher syndrome type 2A [RCV001277084]|not provided [RCV001052445] Chr1:216321942 [GRCh38]
Chr1:216495284 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10940-64G>A single nucleotide variant not provided [RCV001582114] Chr1:215766852 [GRCh38]
Chr1:215940194 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6164-42A>C single nucleotide variant not provided [RCV001565014] Chr1:216046634 [GRCh38]
Chr1:216219976 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q41(chr1:215793834-215861411)x1 copy number loss not provided [RCV000736874] Chr1:215793834..215861411 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41(chr1:215859895-215861469)x1 copy number loss not provided [RCV000736875] Chr1:215859895..215861469 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41(chr1:215859895-215861572)x1 copy number loss not provided [RCV000736876] Chr1:215859895..215861572 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41(chr1:215859895-215863578)x1 copy number loss not provided [RCV000736877] Chr1:215859895..215863578 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41(chr1:215860464-215863578)x1 copy number loss not provided [RCV000736878] Chr1:215860464..215863578 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q41(chr1:215935660-216115708)x1 copy number loss not provided [RCV000749363] Chr1:215935660..216115708 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:215936900-216115708)x1 copy number loss not provided [RCV000749364] Chr1:215936900..216115708 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1551-82T>C single nucleotide variant not provided [RCV001530675] Chr1:216322058 [GRCh38]
Chr1:216495400 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5857+187C>T single nucleotide variant not provided [RCV001644341] Chr1:216072702 [GRCh38]
Chr1:216246044 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9959-226C>T single nucleotide variant not provided [RCV001581691] Chr1:215790508 [GRCh38]
Chr1:215963850 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11232-321C>G single nucleotide variant not provided [RCV001678761] Chr1:215759073 [GRCh38]
Chr1:215932415 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1645-170G>A single nucleotide variant not provided [RCV001679802] Chr1:216292540 [GRCh38]
Chr1:216465882 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003453905]|Usher syndrome type 2A [RCV002492179]|Usher syndrome type 2A [RCV003453904]|not provided [RCV001964180] Chr1:215799052 [GRCh38]
Chr1:215972394 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11711+71A>T single nucleotide variant Usher syndrome type 2A [RCV001532781]|not provided [RCV001676028] Chr1:215741304 [GRCh38]
Chr1:215914646 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.11390-55C>T single nucleotide variant Usher syndrome type 2A [RCV001532783]|not provided [RCV001676029] Chr1:215743390 [GRCh38]
Chr1:215916732 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys) single nucleotide variant Retinitis pigmentosa [RCV001724836] Chr1:215878927 [GRCh38]
Chr1:216052269 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003451858]|Retinitis pigmentosa [RCV001724844]|not provided [RCV002032670] Chr1:215786860 [GRCh38]
Chr1:215960202 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8681+2T>C single nucleotide variant Retinitis pigmentosa 39 [RCV001591875]|not provided [RCV001866157] Chr1:215877756 [GRCh38]
Chr1:216051098 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2035G>T (p.Gly679Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001591876]|not provided [RCV002573306] Chr1:216251035 [GRCh38]
Chr1:216424377 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) single nucleotide variant Usher syndrome type 2A [RCV001591885]|not provided [RCV002573307] Chr1:215900215 [GRCh38]
Chr1:216073557 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15240_15243del (p.Pro5081fs) deletion Retinal dystrophy [RCV001591891] Chr1:215634513..215634516 [GRCh38]
Chr1:215807855..215807858 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.784+162del deletion not provided [RCV001665650] Chr1:216364791 [GRCh38]
Chr1:216538133 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14968+239C>T single nucleotide variant not provided [RCV001541887] Chr1:215640319 [GRCh38]
Chr1:215813661 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-116_11390-111del deletion not provided [RCV001583332] Chr1:215743446..215743451 [GRCh38]
Chr1:215916788..215916793 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454961]|Retinitis pigmentosa [RCV001099034]|Usher syndrome type 2A [RCV001099035]|not provided [RCV000940474]|not specified [RCV001700513] Chr1:216289316 [GRCh38]
Chr1:216462658 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.6372A>T (p.Thr2124=) single nucleotide variant Usher syndrome type 2A [RCV001273037]|not provided [RCV000979551] Chr1:216000516 [GRCh38]
Chr1:216173858 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12066+4409C>G single nucleotide variant USH2A-related condition [RCV003399343]|not provided [RCV003416389] Chr1:215723621 [GRCh38]
Chr1:215896963 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|uncertain significance
NM_206933.4(USH2A):c.6486-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV001542729]|not provided [RCV002032541] Chr1:215999059 [GRCh38]
Chr1:216172401 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7594+22C>T single nucleotide variant not provided [RCV001666170] Chr1:215900053 [GRCh38]
Chr1:216073395 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14061C>A (p.Val4687=) single nucleotide variant not provided [RCV000977620] Chr1:215671044 [GRCh38]
Chr1:215844386 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4082-66A>C single nucleotide variant Usher syndrome type 2A [RCV001533664]|not provided [RCV001615255] Chr1:216196788 [GRCh38]
Chr1:216370130 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=) single nucleotide variant Usher syndrome type 2A [RCV001271121]|not provided [RCV000938860] Chr1:215675035 [GRCh38]
Chr1:215848377 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.647T>G (p.Val216Gly) single nucleotide variant Usher syndrome type 2A [RCV000853507] Chr1:216418518 [GRCh38]
Chr1:216591860 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14134-68dup duplication not provided [RCV001725289] Chr1:215650853..215650854 [GRCh38]
Chr1:215824195..215824196 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.651+8A>C single nucleotide variant not provided [RCV000980509] Chr1:216418506 [GRCh38]
Chr1:216591848 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14133+234C>G single nucleotide variant not provided [RCV001648762] Chr1:215670738 [GRCh38]
Chr1:215844080 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12066+305del deletion not provided [RCV001693067] Chr1:215727725 [GRCh38]
Chr1:215901067 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8253C>T (p.Asn2751=) single nucleotide variant not provided [RCV000941574] Chr1:215879069 [GRCh38]
Chr1:216052411 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14349C>T (p.Ser4783=) single nucleotide variant not provided [RCV000980650] Chr1:215648761 [GRCh38]
Chr1:215822103 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7452-189G>A single nucleotide variant not provided [RCV001566335] Chr1:215900406 [GRCh38]
Chr1:216073748 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+63C>T single nucleotide variant not provided [RCV001583824] Chr1:215877695 [GRCh38]
Chr1:216051037 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7595-2420C>T single nucleotide variant not provided [RCV001693097] Chr1:215891474 [GRCh38]
Chr1:216064816 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV001578964]|Usher syndrome type 2A [RCV001578963]|not provided [RCV001724371]|not specified [RCV002266005] Chr1:215634661 [GRCh38]
Chr1:215808003 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11391G>A (p.Gly3797=) single nucleotide variant not provided [RCV000978767] Chr1:215743334 [GRCh38]
Chr1:215916676 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6354del (p.Leu2119fs) deletion Usher syndrome type 2A [RCV001587994] Chr1:216000534 [GRCh38]
Chr1:216173876 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14747del (p.Gly4916fs) deletion Usher syndrome type 2A [RCV001587999] Chr1:215647566 [GRCh38]
Chr1:215820908 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV001588003]|Usher syndrome type 2A [RCV001588002] Chr1:215650789 [GRCh38]
Chr1:215824131 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV001588007]|Usher syndrome type 2A [RCV001588006] Chr1:216083472 [GRCh38]
Chr1:216256814 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13236G>A (p.Gln4412=) single nucleotide variant Usher syndrome type 2A [RCV001832233]|not provided [RCV000976455] Chr1:215674675 [GRCh38]
Chr1:215848017 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12067-31del deletion Retinitis pigmentosa 39 [RCV002243322]|Usher syndrome type 2A [RCV002243321]|not provided [RCV001610871] Chr1:215680407 [GRCh38]
Chr1:215853749 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8682-77A>C single nucleotide variant not provided [RCV001586498] Chr1:215867247 [GRCh38]
Chr1:216040589 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8089G>T (p.Glu2697Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV000760987]|not provided [RCV002533857] Chr1:215888560 [GRCh38]
Chr1:216061902 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12067-1G>A single nucleotide variant Usher syndrome type 2A [RCV001002693] Chr1:215680377 [GRCh38]
Chr1:215853719 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala) single nucleotide variant Retinitis pigmentosa [RCV001199799]|not provided [RCV000761700] Chr1:216086757 [GRCh38]
Chr1:216260099 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu) single nucleotide variant Retinitis pigmentosa [RCV001199798]|not provided [RCV000761701] Chr1:216086760 [GRCh38]
Chr1:216260102 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.15238G>T (p.Val5080Leu) single nucleotide variant not provided [RCV000761697] Chr1:215634518 [GRCh38]
Chr1:215807860 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453580]|Usher syndrome type 2A [RCV001835953]|not provided [RCV000761698] Chr1:215838006 [GRCh38]
Chr1:216011348 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5921C>T (p.Thr1974Ile) single nucleotide variant not provided [RCV000761699] Chr1:216070229 [GRCh38]
Chr1:216243571 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003453582]|Usher syndrome type 2A [RCV003453581]|not provided [RCV000761702] Chr1:216198497 [GRCh38]
Chr1:216371839 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003461021]|Retinitis pigmentosa [RCV001199793]|not provided [RCV000761703] Chr1:216231993 [GRCh38]
Chr1:216405335 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2218A>T (p.Asn740Tyr) single nucleotide variant not provided [RCV000761706] Chr1:216247176 [GRCh38]
Chr1:216420518 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2202A>G (p.Lys734=) single nucleotide variant not provided [RCV000761707] Chr1:216247192 [GRCh38]
Chr1:216420534 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2777G>T (p.Arg926Leu) single nucleotide variant not provided [RCV000761704] Chr1:216246617 [GRCh38]
Chr1:216419959 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2444G>C (p.Cys815Ser) single nucleotide variant Retinitis pigmentosa [RCV001199792]|not provided [RCV000761705] Chr1:216246950 [GRCh38]
Chr1:216420292 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.252T>G (p.Cys84Trp) single nucleotide variant not provided [RCV003239164] Chr1:216422085 [GRCh38]
Chr1:216595427 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu) single nucleotide variant Usher syndrome type 2A [RCV001276152]|not provided [RCV001052658] Chr1:215671198 [GRCh38]
Chr1:215844540 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) single nucleotide variant Retinal dystrophy [RCV001074647]|Retinitis pigmentosa 39 [RCV003453567]|Usher syndrome [RCV003324534]|Usher syndrome type 2A [RCV001825506]|not provided [RCV000760346] Chr1:215634667 [GRCh38]
Chr1:215808009 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003461016]|Usher syndrome type 2A [RCV003453568]|not provided [RCV000760347] Chr1:215759826 [GRCh38]
Chr1:215933168 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13696A>G (p.Thr4566Ala) single nucleotide variant not provided [RCV003315062] Chr1:215674215 [GRCh38]
Chr1:215847557 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) single nucleotide variant Usher syndrome type 2A [RCV003453570]|not provided [RCV000760647] Chr1:215888650 [GRCh38]
Chr1:216061992 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453572]|Usher syndrome type 2A [RCV003453571]|not provided [RCV000760648] Chr1:216247101 [GRCh38]
Chr1:216420443 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003455060]|Usher syndrome type 2A [RCV001004144]|Usher syndrome type 2A [RCV002489513]|not provided [RCV001383730] Chr1:215728342 [GRCh38]
Chr1:215901684 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val) single nucleotide variant Usher syndrome type 2A [RCV001836452]|not provided [RCV001569077]|not specified [RCV003388028] Chr1:215888725 [GRCh38]
Chr1:216062067 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.6657+202dup duplication not provided [RCV001666813] Chr1:215998682..215998683 [GRCh38]
Chr1:216172024..216172025 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9371+261C>T single nucleotide variant not provided [RCV001550664] Chr1:215837730 [GRCh38]
Chr1:216011072 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8682-5T>C single nucleotide variant Usher syndrome type 2A [RCV001832493]|not provided [RCV001054299] Chr1:215867175 [GRCh38]
Chr1:216040517 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11390-76_11390-75insATATAT microsatellite not provided [RCV001586672] Chr1:215743410..215743411 [GRCh38]
Chr1:215916752..215916753 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-1050GA[14] microsatellite not provided [RCV001693481] Chr1:216074324..216074325 [GRCh38]
Chr1:216247666..216247667 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11048-153A>T single nucleotide variant not provided [RCV001577138] Chr1:215759996 [GRCh38]
Chr1:215933338 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.651G>T (p.Gln217His) single nucleotide variant Retinitis pigmentosa 39 [RCV003455245]|Usher syndrome type 2A [RCV001277091]|not provided [RCV001054444] Chr1:216418514 [GRCh38]
Chr1:216591856 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala) single nucleotide variant Inborn genetic diseases [RCV002555940]|Retinitis pigmentosa 39 [RCV001578840]|Usher syndrome type 2A [RCV001578839]|not provided [RCV001090614] Chr1:215680331 [GRCh38]
Chr1:215853673 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6765C>A (p.Asp2255Glu) single nucleotide variant Inborn genetic diseases [RCV003268708] Chr1:215993060 [GRCh38]
Chr1:216166402 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3157+158G>A single nucleotide variant not provided [RCV001551402] Chr1:216217229 [GRCh38]
Chr1:216390571 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7300+263A>C single nucleotide variant not provided [RCV001551405] Chr1:215934353 [GRCh38]
Chr1:216107695 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9739+2T>C single nucleotide variant not provided [RCV001700830] Chr1:215813734 [GRCh38]
Chr1:215987076 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003455263]|Retinitis pigmentosa [RCV001099315]|Usher syndrome type 2A [RCV001101302]|not provided [RCV001058100] Chr1:216422153 [GRCh38]
Chr1:216595495 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14134-82dup duplication not provided [RCV001577583] Chr1:215650875..215650876 [GRCh38]
Chr1:215824217..215824218 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9959-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003463058]|not provided [RCV001701217] Chr1:215790284 [GRCh38]
Chr1:215963626 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5858-214C>T single nucleotide variant not provided [RCV001577892] Chr1:216070506 [GRCh38]
Chr1:216243848 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9570+230G>T single nucleotide variant not provided [RCV001547199] Chr1:215816767 [GRCh38]
Chr1:215990109 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+10935T>C single nucleotide variant not provided [RCV001647853] Chr1:216164317 [GRCh38]
Chr1:216337659 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10741-97G>A single nucleotide variant not provided [RCV001570726] Chr1:215780138 [GRCh38]
Chr1:215953480 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1841-377A>G single nucleotide variant Usher syndrome type 2A [RCV003448543] Chr1:216289787 [GRCh38]
Chr1:216463129 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001591874]|Usher syndrome type 2A [RCV003451821]|not provided [RCV001866156] Chr1:215674278 [GRCh38]
Chr1:215847620 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro) single nucleotide variant Usher syndrome type 2A [RCV001832532]|not provided [RCV001059367] Chr1:215888547 [GRCh38]
Chr1:216061889 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs) microsatellite Retinitis pigmentosa [RCV000787736] Chr1:216078114..216078115 [GRCh38]
Chr1:216251456..216251457 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9056-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003461062]|Retinitis pigmentosa [RCV000787742]|Usher syndrome type 2A [RCV001830680]|not provided [RCV001091128] Chr1:215844498 [GRCh38]
Chr1:216017840 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del deletion Retinitis pigmentosa [RCV000787756] Chr1:1q41 pathogenic
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del deletion Retinitis pigmentosa [RCV000787758]   likely pathogenic
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter) single nucleotide variant Retinitis pigmentosa [RCV000787894]|not provided [RCV001869195] Chr1:216251042 [GRCh38]
Chr1:216424384 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys) single nucleotide variant Retinitis pigmentosa [RCV000787722] Chr1:215674637 [GRCh38]
Chr1:215847979 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser) single nucleotide variant Retinitis pigmentosa [RCV000787728] Chr1:216217539 [GRCh38]
Chr1:216390881 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) single nucleotide variant Retinitis pigmentosa [RCV000787738]|Usher syndrome type 2A [RCV002487622]|not provided [RCV001698511] Chr1:215993097 [GRCh38]
Chr1:216166439 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2994-200del deletion not provided [RCV001549548] Chr1:216217750 [GRCh38]
Chr1:216391092 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2919A>G (p.Gln973=) single nucleotide variant not provided [RCV001228264] Chr1:216232027 [GRCh38]
Chr1:216405369 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met) single nucleotide variant not provided [RCV000993534] Chr1:215786773 [GRCh38]
Chr1:215960115 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6163+155G>A single nucleotide variant not provided [RCV001725286] Chr1:216048379 [GRCh38]
Chr1:216221721 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14792-190C>T single nucleotide variant not provided [RCV001586234] Chr1:215640924 [GRCh38]
Chr1:215814266 [GRCh37]
Chr1:1q41
likely benign
Single allele insertion not provided [RCV000985239] Chr1:1q41 pathogenic
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu) single nucleotide variant Retinitis pigmentosa [RCV001724841] Chr1:215741402 [GRCh38]
Chr1:215914744 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8845+507A>C single nucleotide variant not provided [RCV001609937] Chr1:215866500 [GRCh38]
Chr1:216039842 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5298+82C>A single nucleotide variant not provided [RCV001693269] Chr1:216083374 [GRCh38]
Chr1:216256716 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter) single nucleotide variant Usher syndrome type 2A [RCV000986526] Chr1:215799038 [GRCh38]
Chr1:215972380 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val) single nucleotide variant Usher syndrome type 2A [RCV000986540]|not provided [RCV001858645] Chr1:216232136 [GRCh38]
Chr1:216405478 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) single nucleotide variant Retinal dystrophy [RCV001075391]|Usher syndrome type 2A [RCV000986551]|not provided [RCV001307771]|not specified [RCV002265917] Chr1:216325597 [GRCh38]
Chr1:216498939 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) deletion Retinitis pigmentosa 39 [RCV003455026]|not provided [RCV000994245] Chr1:215674568..215674576 [GRCh38]
Chr1:215847910..215847918 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6711C>T (p.Asp2237=) single nucleotide variant Retinitis pigmentosa 39 [RCV001579276]|Usher syndrome type 2A [RCV001579275]|not provided [RCV000942680] Chr1:215993114 [GRCh38]
Chr1:216166456 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1645-8dup duplication not provided [RCV000983629] Chr1:216292377..216292378 [GRCh38]
Chr1:216465719..216465720 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11047+10C>T single nucleotide variant not provided [RCV000982632] Chr1:215766671 [GRCh38]
Chr1:215940013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12063G>C (p.Val4021=) single nucleotide variant not provided [RCV000944872] Chr1:215728033 [GRCh38]
Chr1:215901375 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8846-7T>C single nucleotide variant not provided [RCV000948580] Chr1:215846040 [GRCh38]
Chr1:216019382 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.12987T>C (p.Tyr4329=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454987]|Usher syndrome type 2A [RCV003454986]|not provided [RCV000982004] Chr1:215674924 [GRCh38]
Chr1:215848266 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6096A>G (p.Leu2032=) single nucleotide variant Usher syndrome type 2A [RCV001273041]|not provided [RCV000905579] Chr1:216048601 [GRCh38]
Chr1:216221943 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7452-4A>G single nucleotide variant not provided [RCV000982685] Chr1:215900221 [GRCh38]
Chr1:216073563 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=) single nucleotide variant Usher syndrome type 2A [RCV001273048]|not provided [RCV000904272] Chr1:216073296 [GRCh38]
Chr1:216246638 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=) single nucleotide variant Usher syndrome type 2A [RCV001274944]|not provided [RCV000927486] Chr1:215759788 [GRCh38]
Chr1:215933130 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6325+10C>T single nucleotide variant not provided [RCV000900619] Chr1:216046421 [GRCh38]
Chr1:216219763 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) single nucleotide variant Usher syndrome type 2A [RCV001276966]|not provided [RCV000926752] Chr1:215867092 [GRCh38]
Chr1:216040434 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.14804G>A (p.Arg4935Gln) single nucleotide variant not provided [RCV000905067] Chr1:215640722 [GRCh38]
Chr1:215814064 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454956]|Usher syndrome type 2A [RCV001271991]|not provided [RCV000928601] Chr1:215970652 [GRCh38]
Chr1:216143994 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454939]|Usher syndrome type 2A [RCV001276948]|not provided [RCV000900824] Chr1:215786683 [GRCh38]
Chr1:215960025 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.4578G>A (p.Gly1526=) single nucleotide variant not provided [RCV000943908] Chr1:216175301 [GRCh38]
Chr1:216348643 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10854C>T (p.Gly3618=) single nucleotide variant Usher syndrome type 2A [RCV001274947]|not provided [RCV000982250] Chr1:215779928 [GRCh38]
Chr1:215953270 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454953]|Usher syndrome type 2A [RCV001274934]|not provided [RCV000919947]|not specified [RCV001195476] Chr1:215675512 [GRCh38]
Chr1:215848854 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13794G>A (p.Gln4598=) single nucleotide variant not provided [RCV000919986] Chr1:215674117 [GRCh38]
Chr1:215847459 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12045C>A (p.Thr4015=) single nucleotide variant not provided [RCV000942086] Chr1:215728051 [GRCh38]
Chr1:215901393 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454968]|Usher syndrome type 2A [RCV001836032]|not provided [RCV000942104] Chr1:215934686 [GRCh38]
Chr1:216108028 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3780T>C (p.His1260=) single nucleotide variant Retinitis pigmentosa [RCV001097079]|Usher syndrome type 2A [RCV001097080]|not provided [RCV000903592] Chr1:216199658 [GRCh38]
Chr1:216373000 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10387+10A>G single nucleotide variant not provided [RCV000982375] Chr1:215786660 [GRCh38]
Chr1:215960002 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14871G>C (p.Leu4957=) single nucleotide variant not provided [RCV000914839] Chr1:215640655 [GRCh38]
Chr1:215813997 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.14925C>T (p.Ser4975=) single nucleotide variant not provided [RCV000967812] Chr1:215640601 [GRCh38]
Chr1:215813943 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15000C>T (p.Asp5000=) single nucleotide variant not provided [RCV000975682] Chr1:215639207 [GRCh38]
Chr1:215812549 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2259C>T (p.Gly753=) single nucleotide variant not provided [RCV000983223] Chr1:216247135 [GRCh38]
Chr1:216420477 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp) single nucleotide variant Usher syndrome type 2A [RCV001271975]|not provided [RCV000899758] Chr1:215888810 [GRCh38]
Chr1:216062152 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10605C>A (p.Ile3535=) single nucleotide variant not provided [RCV000927653] Chr1:215782177 [GRCh38]
Chr1:215955519 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14473C>T (p.His4825Tyr) single nucleotide variant Leber congenital amaurosis [RCV000754978] Chr1:215648637 [GRCh38]
Chr1:215821979 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8727T>C (p.Gly2909=) single nucleotide variant not provided [RCV000928838] Chr1:215867125 [GRCh38]
Chr1:216040467 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13836C>T (p.Cys4612=) single nucleotide variant not provided [RCV000928873] Chr1:215671269 [GRCh38]
Chr1:215844611 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=) single nucleotide variant Usher syndrome type 2A [RCV001271910]|not provided [RCV000942699] Chr1:215634491 [GRCh38]
Chr1:215807833 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13800G>A (p.Lys4600=) single nucleotide variant not provided [RCV000920654] Chr1:215674111 [GRCh38]
Chr1:215847453 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4293A>G (p.Val1431=) single nucleotide variant not provided [RCV000915335] Chr1:216190326 [GRCh38]
Chr1:216363668 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4759-4T>C single nucleotide variant not provided [RCV000982872] Chr1:216089143 [GRCh38]
Chr1:216262485 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10401G>A (p.Lys3467=) single nucleotide variant not provided [RCV000976416] Chr1:215782922 [GRCh38]
Chr1:215956264 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1840+9C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446559]|Usher syndrome type 2A [RCV003446558]|not provided [RCV000976490]|not specified [RCV003396566] Chr1:216292166 [GRCh38]
Chr1:216465508 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9684G>A (p.Gln3228=) single nucleotide variant not provided [RCV000983448] Chr1:215813791 [GRCh38]
Chr1:215987133 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7500C>T (p.Leu2500=) single nucleotide variant not provided [RCV000980882] Chr1:215900169 [GRCh38]
Chr1:216073511 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile) single nucleotide variant Usher syndrome type 2A [RCV001275022]|not provided [RCV000928928] Chr1:216247029 [GRCh38]
Chr1:216420371 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454955]|Usher syndrome type 2A [RCV001271981]|not provided [RCV000928349] Chr1:215900193 [GRCh38]
Chr1:216073535 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=) single nucleotide variant Retinitis pigmentosa 39 [RCV001330643]|Usher syndrome type 2A [RCV001276954]|not provided [RCV000928362] Chr1:215798959 [GRCh38]
Chr1:215972301 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=) single nucleotide variant Usher syndrome type 2A [RCV001827007]|not provided [RCV000943183] Chr1:215999016 [GRCh38]
Chr1:216172358 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.14344-7T>C single nucleotide variant not provided [RCV000983594] Chr1:215648773 [GRCh38]
Chr1:215822115 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.933C>G (p.Val311=) single nucleotide variant not provided [RCV000906559] Chr1:216325515 [GRCh38]
Chr1:216498857 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=) single nucleotide variant Usher syndrome type 2A [RCV001271912]|not provided [RCV000904957] Chr1:215640634 [GRCh38]
Chr1:215813976 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10740+7G>A single nucleotide variant Usher syndrome type 2A [RCV001274949]|not provided [RCV000944662] Chr1:215782035 [GRCh38]
Chr1:215955377 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=) single nucleotide variant Usher syndrome type 2A [RCV001272946]|not provided [RCV000927913] Chr1:215674993 [GRCh38]
Chr1:215848335 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12186A>G (p.Leu4062=) single nucleotide variant not provided [RCV000982247] Chr1:215680257 [GRCh38]
Chr1:215853599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13422C>T (p.Ile4474=) single nucleotide variant not provided [RCV000903234] Chr1:215674489 [GRCh38]
Chr1:215847831 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8871T>A (p.Val2957=) single nucleotide variant not provided [RCV000903256] Chr1:215846008 [GRCh38]
Chr1:216019350 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met) single nucleotide variant Usher syndrome type 2A [RCV001828527]|not provided [RCV001071220] Chr1:215813829 [GRCh38]
Chr1:215987171 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216289280)_(216292370_?)del deletion not provided [RCV001033368] Chr1:216462622..216465712 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12409del (p.Arg4137fs) deletion Retinal dystrophy [RCV001075268]|Retinitis pigmentosa 39 [RCV003455410]|not provided [RCV002557924] Chr1:215675502 [GRCh38]
Chr1:215848844 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.725dup (p.Ser243fs) duplication Retinal dystrophy [RCV001075269]|Retinitis pigmentosa 39 [RCV003455411]|not provided [RCV002554754] Chr1:216365011..216365012 [GRCh38]
Chr1:216538353..216538354 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3317-2A>G single nucleotide variant Retinal dystrophy [RCV001075303]|Retinitis pigmentosa 39 [RCV003446614]|Usher syndrome type 2A [RCV001828541]|not provided [RCV001386858] Chr1:216200123 [GRCh38]
Chr1:216373465 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2761del (p.Leu921fs) deletion Retinal dystrophy [RCV001075313] Chr1:216246633 [GRCh38]
Chr1:216419975 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9307del (p.Ile3103fs) deletion Retinal dystrophy [RCV001075392]|Retinitis pigmentosa 39 [RCV003455412]|not provided [RCV001205880] Chr1:215838055 [GRCh38]
Chr1:216011397 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter) single nucleotide variant Retinal dystrophy [RCV001075393] Chr1:215671086 [GRCh38]
Chr1:215844428 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1672del (p.Asp558fs) deletion Retinal dystrophy [RCV001075405] Chr1:216292343 [GRCh38]
Chr1:216465685 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro) single nucleotide variant Retinal dystrophy [RCV001075419] Chr1:215650696 [GRCh38]
Chr1:215824038 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11189del (p.Glu3730fs) deletion Retinal dystrophy [RCV001075429]|Retinitis pigmentosa 39 [RCV003455413]|not provided [RCV001388448] Chr1:215759702 [GRCh38]
Chr1:215933044 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7412T>G (p.Leu2471Arg) single nucleotide variant not provided [RCV001043917] Chr1:215900794 [GRCh38]
Chr1:216074136 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10882G>C (p.Val3628Leu) single nucleotide variant not provided [RCV001043931] Chr1:215779900 [GRCh38]
Chr1:215953242 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8537A>G (p.Lys2846Arg) single nucleotide variant not provided [RCV001044107] Chr1:215878785 [GRCh38]
Chr1:216052127 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His) single nucleotide variant USH2A-related condition [RCV003425909]|Usher syndrome type 2A [RCV001827433]|not provided [RCV001066962] Chr1:215674953 [GRCh38]
Chr1:215848295 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.3344T>C (p.Leu1115Pro) single nucleotide variant not provided [RCV001041994] Chr1:216200094 [GRCh38]
Chr1:216373436 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4842G>C (p.Arg1614Ser) single nucleotide variant not provided [RCV001071979] Chr1:216089056 [GRCh38]
Chr1:216262398 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val) single nucleotide variant Retinal dystrophy [RCV001075435]|not provided [RCV001464961] Chr1:216199773 [GRCh38]
Chr1:216373115 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser) single nucleotide variant Retinal dystrophy [RCV001075573] Chr1:215813807 [GRCh38]
Chr1:215987149 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly) single nucleotide variant Retinal dystrophy [RCV001075638] Chr1:216000521 [GRCh38]
Chr1:216173863 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter) single nucleotide variant Retinal dystrophy [RCV001075640]|Retinitis pigmentosa 39 [RCV003455415]|not provided [RCV002554764] Chr1:216323574 [GRCh38]
Chr1:216496916 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser) single nucleotide variant Retinal dystrophy [RCV001075642] Chr1:215675014 [GRCh38]
Chr1:215848356 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) single nucleotide variant Retinal dystrophy [RCV001075644]|Retinitis pigmentosa 39 [RCV001376414]|Usher syndrome type 2A [RCV003455416]|not provided [RCV002554765] Chr1:215674497 [GRCh38]
Chr1:215847839 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14828A>G (p.Asn4943Ser) single nucleotide variant not provided [RCV001044371] Chr1:215640698 [GRCh38]
Chr1:215814040 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003455180]|Usher syndrome type 2A [RCV001275020]|not provided [RCV001043927] Chr1:216207337 [GRCh38]
Chr1:216380679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=) single nucleotide variant Usher syndrome type 2A [RCV001833678]|not provided [RCV001071994] Chr1:215782048 [GRCh38]
Chr1:215955390 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NC_000001.11:g.(?_216175228)_(216175492_?)del deletion not provided [RCV001031455] Chr1:216348570..216348834 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser) single nucleotide variant Retinal dystrophy [RCV001075813] Chr1:216199983 [GRCh38]
Chr1:216373325 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) single nucleotide variant Retinal dystrophy [RCV001075822]|Retinitis pigmentosa 39 [RCV003455425]|Usher syndrome type 2A [RCV002250723]|not provided [RCV001381658] Chr1:216175303 [GRCh38]
Chr1:216348645 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg) single nucleotide variant Retinal dystrophy [RCV001075862] Chr1:215758607 [GRCh38]
Chr1:215931949 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) single nucleotide variant Retinal dystrophy [RCV001075873]|not provided [RCV001204623]|not specified [RCV002469344] Chr1:215970747 [GRCh38]
Chr1:216144089 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) single nucleotide variant Retinal dystrophy [RCV001075806]|Retinitis pigmentosa 39 [RCV003455424]|Usher syndrome type 2A [RCV003455423]|not provided [RCV001307143] Chr1:216072927 [GRCh38]
Chr1:216246269 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14824A>G (p.Ser4942Gly) single nucleotide variant not provided [RCV001033967] Chr1:215640702 [GRCh38]
Chr1:215814044 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13448G>A (p.Gly4483Glu) single nucleotide variant not provided [RCV001038324] Chr1:215674463 [GRCh38]
Chr1:215847805 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1120G>A (p.Asp374Asn) single nucleotide variant Usher syndrome type 2A [RCV001833651]|not provided [RCV001067406] Chr1:216325328 [GRCh38]
Chr1:216498670 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys) single nucleotide variant Usher syndrome type 2A [RCV001273043]|not provided [RCV001051362] Chr1:216070170 [GRCh38]
Chr1:216243512 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.127G>A (p.Val43Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003455222]|Usher syndrome type 2A [RCV001277093]|not provided [RCV001051408] Chr1:216422210 [GRCh38]
Chr1:216595552 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3679G>C (p.Gly1227Arg) single nucleotide variant not provided [RCV001049403] Chr1:216199759 [GRCh38]
Chr1:216373101 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003455214]|Usher syndrome type 2A [RCV001271228]|not provided [RCV001050116]|not specified [RCV002222663] Chr1:216198458 [GRCh38]
Chr1:216371800 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.784+2T>C single nucleotide variant not provided [RCV001039607] Chr1:216364951 [GRCh38]
Chr1:216538293 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV001376322]|Usher syndrome [RCV002282450]|Usher syndrome type 2A [RCV003455294]|not provided [RCV001067861] Chr1:216097109 [GRCh38]
Chr1:216270451 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13568T>C (p.Val4523Ala) single nucleotide variant not provided [RCV001034431] Chr1:215674343 [GRCh38]
Chr1:215847685 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr) single nucleotide variant Usher syndrome type 2A [RCV001836084]|not provided [RCV001044894] Chr1:215993148 [GRCh38]
Chr1:216166490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5151_5152del (p.Gln1718fs) deletion not provided [RCV001054473] Chr1:216084713..216084714 [GRCh38]
Chr1:216258055..216258056 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003455167]|Usher syndrome type 2A [RCV001832402]|not provided [RCV001040805] Chr1:216000440 [GRCh38]
Chr1:216173782 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003455168]|Usher syndrome type 2A [RCV001827245]|not provided [RCV001040908] Chr1:215900894 [GRCh38]
Chr1:216074236 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446587]|Retinitis pigmentosa [RCV001199580]|not provided [RCV001064231] Chr1:216097215 [GRCh38]
Chr1:216270557 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NC_000001.11:g.(?_215798897)_(215799135_?)del deletion not provided [RCV001031526] Chr1:215972239..215972477 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.11:g.(?_215766671)_(215934805_?)del deletion not provided [RCV001032303] Chr1:215940013..216108147 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003455192]|Usher syndrome type 2A [RCV003455191]|not provided [RCV001046327] Chr1:215790177 [GRCh38]
Chr1:215963519 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11764G>A (p.Ala3922Thr) single nucleotide variant not provided [RCV001061214] Chr1:215728332 [GRCh38]
Chr1:215901674 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly) single nucleotide variant Usher syndrome type 2A [RCV001274239]|not provided [RCV001064856] Chr1:215888646 [GRCh38]
Chr1:216061988 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg) single nucleotide variant Usher syndrome type 2A [RCV001833662]|not provided [RCV001069367] Chr1:215650710 [GRCh38]
Chr1:215824052 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3316+5G>C single nucleotide variant Retinal dystrophy [RCV001073232]|Retinitis pigmentosa 39 [RCV003446604]|Usher syndrome type 2A [RCV003446603]|not provided [RCV001299388] Chr1:216207268 [GRCh38]
Chr1:216380610 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) single nucleotide variant Retinal dystrophy [RCV001073233]|Usher syndrome type 2A [RCV001828533]|Usher syndrome type 2A [RCV002480448]|not provided [RCV001245929] Chr1:215675351 [GRCh38]
Chr1:215848693 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) single nucleotide variant Retinal dystrophy [RCV001073240]|Retinitis pigmentosa 39 [RCV003455307]|Usher syndrome type 2A [RCV001833681]|not provided [RCV001226170] Chr1:215790249 [GRCh38]
Chr1:215963591 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs) deletion Retinal dystrophy [RCV001073301]|Retinitis pigmentosa 39 [RCV003455310]|not provided [RCV001862493] Chr1:215674315..215674316 [GRCh38]
Chr1:215847657..215847658 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter) single nucleotide variant Retinal dystrophy [RCV001073302] Chr1:216324260 [GRCh38]
Chr1:216497602 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) single nucleotide variant Retinal dystrophy [RCV001073309]|Retinitis pigmentosa 39 [RCV003455312]|Usher syndrome type 2A [RCV003455311]|not provided [RCV001862801] Chr1:215674344 [GRCh38]
Chr1:215847686 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12913del (p.Met4305fs) deletion Retinal dystrophy [RCV001073329] Chr1:215674998 [GRCh38]
Chr1:215848340 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs) deletion Retinal dystrophy [RCV001073356] Chr1:216089063..216089075 [GRCh38]
Chr1:216262405..216262417 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs) deletion Retinal dystrophy [RCV001073466]|Retinitis pigmentosa 39 [RCV003455320]|not provided [RCV002554663] Chr1:215758648 [GRCh38]
Chr1:215931990 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) single nucleotide variant Retinal dystrophy [RCV001073478]|Retinitis pigmentosa 39 [RCV003455321]|not provided [RCV002554665] Chr1:216422239 [GRCh38]
Chr1:216595581 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu) single nucleotide variant Usher syndrome type 2A [RCV001832406]|not provided [RCV001042154] Chr1:216418599 [GRCh38]
Chr1:216591941 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His) single nucleotide variant Retinitis pigmentosa 39 [RCV003455193]|Usher syndrome type 2A [RCV001273056]|not provided [RCV001047049] Chr1:216175317 [GRCh38]
Chr1:216348659 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met) single nucleotide variant Inborn genetic diseases [RCV003160360]|Usher syndrome type 2A [RCV001271136]|not provided [RCV001047098] Chr1:215758602 [GRCh38]
Chr1:215931944 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5883A>C (p.Ser1961=) single nucleotide variant not provided [RCV001047111] Chr1:216070267 [GRCh38]
Chr1:216243609 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3372_3373del (p.Tyr1124_Ile1125insTer) deletion not provided [RCV001065463] Chr1:216200065..216200066 [GRCh38]
Chr1:216373407..216373408 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_215837981)_(215838113_?)del deletion not provided [RCV001031875] Chr1:216011323..216011455 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_216321873)_(216327664_?)del deletion not provided [RCV001032766] Chr1:216495215..216501006 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_215670962)_(215675626_?)del deletion not provided [RCV001032803] Chr1:215844304..215848968 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_216097073)_(216097223_?)del deletion not provided [RCV001032869] Chr1:216270415..216270565 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) single nucleotide variant Retinal dystrophy [RCV001073479]|Retinitis pigmentosa 39 [RCV003455323]|Usher syndrome type 2A [RCV003455322]|not provided [RCV001862503] Chr1:216422206 [GRCh38]
Chr1:216595548 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12703C>T (p.Gln4235Ter) single nucleotide variant Retinal dystrophy [RCV001073536]|Retinitis pigmentosa 39 [RCV003455327]|not provided [RCV001245216] Chr1:215675208 [GRCh38]
Chr1:215848550 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1644+5G>C single nucleotide variant Retinal dystrophy [RCV001073562]|Retinitis pigmentosa 39 [RCV003446606]|Usher syndrome type 2A [RCV003446605]|not specified [RCV003396731] Chr1:216321878 [GRCh38]
Chr1:216495220 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4384del (p.Thr1462fs) deletion Retinal dystrophy [RCV001073563] Chr1:216190235 [GRCh38]
Chr1:216363577 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) single nucleotide variant Retinal dystrophy [RCV001073592]|Retinitis pigmentosa 39 [RCV003455329]|Usher syndrome type 2A [RCV003455328]|not provided [RCV001862507] Chr1:216250983 [GRCh38]
Chr1:216424325 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3157+5G>A single nucleotide variant Retinal dystrophy [RCV001073597] Chr1:216217382 [GRCh38]
Chr1:216390724 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7468del (p.Ser2490fs) deletion Retinal dystrophy [RCV001073651]|not provided [RCV001386482] Chr1:215900201 [GRCh38]
Chr1:216073543 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) single nucleotide variant Retinal dystrophy [RCV001073726]|Retinitis pigmentosa 39 [RCV003455331]|Usher syndrome type 2A [RCV001828534]|not provided [RCV001239539] Chr1:215786684 [GRCh38]
Chr1:215960026 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=) single nucleotide variant Retinal dystrophy [RCV001073792] Chr1:215647565 [GRCh38]
Chr1:215820907 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) single nucleotide variant Inborn genetic diseases [RCV002557899]|Retinal dystrophy [RCV001073804]|Retinitis pigmentosa 39 [RCV001376409]|Usher syndrome type 2A [RCV001828535]|not provided [RCV001245666] Chr1:215648741 [GRCh38]
Chr1:215822083 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NC_000001.10:g.(?_215747129)_(215824143_?)del deletion not provided [RCV001033576] Chr1:215747129..215824143 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) single nucleotide variant Retinal dystrophy [RCV001073861]|Retinitis pigmentosa 39 [RCV003455334]|Usher syndrome type 2A [RCV001833685]|not provided [RCV001811643] Chr1:215867062 [GRCh38]
Chr1:216040404 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.803del (p.Gly268fs) deletion not provided [RCV001062194] Chr1:216327636 [GRCh38]
Chr1:216500978 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12848T>G (p.Ile4283Ser) single nucleotide variant not provided [RCV001047835] Chr1:215675063 [GRCh38]
Chr1:215848405 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7452-3C>T single nucleotide variant Usher syndrome type 2A [RCV001827424]|not provided [RCV001065987] Chr1:215900220 [GRCh38]
Chr1:216073562 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8932_8933insSVAelement insertion not provided [RCV001089787] Chr1:215845946..215845947 [GRCh38]
Chr1:216019288..216019289 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_215993010)_(215993177_?)del deletion not provided [RCV001031891] Chr1:216166352..216166519 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_215670962)_(215671303_?)del deletion not provided [RCV001031970] Chr1:215844304..215844645 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_216364943)_(216365095_?)del deletion not provided [RCV001032965] Chr1:216538285..216538437 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2293del (p.Gln765fs) deletion Retinal dystrophy [RCV001073901] Chr1:216247101 [GRCh38]
Chr1:216420443 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=) single nucleotide variant Retinal dystrophy [RCV001073903]|not provided [RCV002069577] Chr1:215674957 [GRCh38]
Chr1:215848299 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln) single nucleotide variant Retinal dystrophy [RCV001073936]|not provided [RCV001244827] Chr1:215674334 [GRCh38]
Chr1:215847676 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) single nucleotide variant Retinal dystrophy [RCV001073961]|Retinitis pigmentosa 39 [RCV003455339]|Usher syndrome type 2A [RCV003455338]|not provided [RCV002554692] Chr1:216083575 [GRCh38]
Chr1:216256917 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.775_776del (p.Ser259fs) microsatellite Retinal dystrophy [RCV001073967]|Retinitis pigmentosa 39 [RCV003455340]|not provided [RCV001862812] Chr1:216364961..216364962 [GRCh38]
Chr1:216538303..216538304 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg) single nucleotide variant Retinal dystrophy [RCV001073972]|not provided [RCV001344017] Chr1:216089079 [GRCh38]
Chr1:216262421 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) single nucleotide variant Retinal dystrophy [RCV001074021]|Usher syndrome type 2A [RCV001810494]|not provided [RCV001862816] Chr1:215674563 [GRCh38]
Chr1:215847905 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) single nucleotide variant Inborn genetic diseases [RCV002554695]|Retinal dystrophy [RCV001074039]|Retinitis pigmentosa 39 [RCV003455342]|Usher syndrome type 2A [RCV003455341] Chr1:215790243 [GRCh38]
Chr1:215963585 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) microsatellite Retinal dystrophy [RCV001074042]|Retinitis pigmentosa [RCV001724234]|not provided [RCV001367633] Chr1:215782833..215782835 [GRCh38]
Chr1:215956175..215956177 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14791+5G>T single nucleotide variant Retinal dystrophy [RCV001074063]|Retinitis pigmentosa 39 [RCV003446607]|Usher syndrome type 2A [RCV003448367]|not provided [RCV002557903] Chr1:215647517 [GRCh38]
Chr1:215820859 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del) indel Retinal dystrophy [RCV001074076] Chr1:216323605..216323637 [GRCh38]
Chr1:216496947..216496979 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13407C>A (p.Asn4469Lys) single nucleotide variant not provided [RCV001047836] Chr1:215674504 [GRCh38]
Chr1:215847846 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly) single nucleotide variant Inborn genetic diseases [RCV002552054]|Usher syndrome type 2A [RCV001275016]|not provided [RCV001034303] Chr1:216198455 [GRCh38]
Chr1:216371797 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5167G>A (p.Gly1723Arg) single nucleotide variant not provided [RCV001071597] Chr1:216084698 [GRCh38]
Chr1:216258040 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) deletion Retinal dystrophy [RCV001074249]|Retinitis pigmentosa 39 [RCV003455348]|Usher syndrome type 2A [RCV003455347]|not provided [RCV002554706] Chr1:215900858..215900866 [GRCh38]
Chr1:216074200..216074208 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) single nucleotide variant Hearing impairment [RCV001375065]|Retinal dystrophy [RCV001074254]|Retinitis pigmentosa 39 [RCV003455350]|Usher syndrome type 2A [RCV003455349]|not provided [RCV002554707] Chr1:215817154 [GRCh38]
Chr1:215990496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1644+2T>A single nucleotide variant Retinal dystrophy [RCV001074264] Chr1:216321881 [GRCh38]
Chr1:216495223 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) single nucleotide variant Retinal dystrophy [RCV001074265]|Retinitis pigmentosa 39 [RCV001376388]|Usher syndrome type 2A [RCV003455351] Chr1:215759735 [GRCh38]
Chr1:215933077 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_215867007)_(215993167_?)del deletion not provided [RCV001033625] Chr1:216040349..216166509 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7940del (p.Pro2647fs) deletion Retinal dystrophy [RCV001074349]|Retinitis pigmentosa 39 [RCV003455360]|Usher syndrome type 2 [RCV002307680]|not provided [RCV001862825] Chr1:215888709 [GRCh38]
Chr1:216062051 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) single nucleotide variant Retinal dystrophy [RCV001074358]|Retinitis pigmentosa 39 [RCV003455362]|Usher syndrome type 2A [RCV003455361]|not provided [RCV002554710] Chr1:215782849 [GRCh38]
Chr1:215956191 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs) deletion Usher syndrome [RCV003226420]|Usher syndrome type 2A [RCV003455148]|not provided [RCV001035252] Chr1:215965361..215965362 [GRCh38]
Chr1:216138703..216138704 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2372A>G (p.Asn791Ser) single nucleotide variant not provided [RCV001035475] Chr1:216247022 [GRCh38]
Chr1:216420364 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala) single nucleotide variant Inborn genetic diseases [RCV001267050]|Retinitis pigmentosa 39 [RCV003455208]|Usher syndrome type 2A [RCV001827306]|not provided [RCV001048702] Chr1:215878836 [GRCh38]
Chr1:216052178 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216250893)_(216251108_?)del deletion not provided [RCV001031353] Chr1:216424235..216424450 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.(?_215837981)_(215846043_?)del deletion not provided [RCV001032143] Chr1:216011323..216019385 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=) single nucleotide variant Retinal dystrophy [RCV001074462]|not provided [RCV001473039] Chr1:215674108 [GRCh38]
Chr1:215847450 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) single nucleotide variant Inborn genetic diseases [RCV002554720]|Retinal dystrophy [RCV001074464]|Retinitis pigmentosa 39 [RCV003455367]|Usher syndrome type 2A [RCV003455366]|not provided [RCV002293503] Chr1:215993113 [GRCh38]
Chr1:216166455 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_215837991)_(215846033_?)del deletion not provided [RCV001033639] Chr1:216011333..216019375 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter) single nucleotide variant Retinal dystrophy [RCV001074494]|Retinitis pigmentosa 39 [RCV003455368]|Usher syndrome type 2A [RCV001809978]|not provided [RCV001385356] Chr1:216247207 [GRCh38]
Chr1:216420549 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2993+3A>T single nucleotide variant Retinal dystrophy [RCV001074575] Chr1:216231950 [GRCh38]
Chr1:216405292 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) indel Retinal dystrophy [RCV001074597]|Retinitis pigmentosa 39 [RCV003455054]|Usher syndrome [RCV002282422]|Usher syndrome type 2 [RCV001199586]|Usher syndrome type 2A [RCV003455053]|not provided [RCV002275180] Chr1:215634675..215634693 [GRCh38]
Chr1:215808017..215808035 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2649dup (p.Pro884fs) duplication Retinal dystrophy [RCV001074614]|Retinitis pigmentosa 39 [RCV003455369]|not provided [RCV001268584] Chr1:216246744..216246745 [GRCh38]
Chr1:216420086..216420087 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1038_1091dup (p.Thr363_Gln364insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr) duplication Retinal dystrophy [RCV001074628] Chr1:216325356..216325357 [GRCh38]
Chr1:216498698..216498699 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6715G>C (p.Asp2239His) single nucleotide variant Retinal dystrophy [RCV001074655] Chr1:215993110 [GRCh38]
Chr1:216166452 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) single nucleotide variant Inborn genetic diseases [RCV003380846]|Retinal dystrophy [RCV001074659]|Retinitis pigmentosa 39 [RCV003455371]|Usher syndrome type 2A [RCV003455370]|not provided [RCV001862572] Chr1:215965338 [GRCh38]
Chr1:216138680 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly) single nucleotide variant Retinal dystrophy [RCV001074710] Chr1:215786727 [GRCh38]
Chr1:215960069 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11389+2T>C single nucleotide variant not provided [RCV001049530] Chr1:215758593 [GRCh38]
Chr1:215931935 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003455306]|Usher syndrome type 2A [RCV003455305]|not provided [RCV001071862] Chr1:215799062 [GRCh38]
Chr1:215972404 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val) single nucleotide variant Retinal dystrophy [RCV001074775] Chr1:216097111 [GRCh38]
Chr1:216270453 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_215758595)_(215759843_?)dup duplication not provided [RCV001033745] Chr1:215931937..215933185 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_215813726)_(215817205_?)del deletion not provided [RCV001033748] Chr1:215987068..215990547 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5857+1G>C single nucleotide variant Retinal dystrophy [RCV001074953]|Retinitis pigmentosa 39 [RCV003446612]|not provided [RCV001862587] Chr1:216072888 [GRCh38]
Chr1:216246230 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1644+1G>A single nucleotide variant Retinal dystrophy [RCV001075057]|Retinitis pigmentosa 39 [RCV003446613]|not provided [RCV001862840] Chr1:216321882 [GRCh38]
Chr1:216495224 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr) single nucleotide variant Retinal dystrophy [RCV001075058] Chr1:215779956 [GRCh38]
Chr1:215953298 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) single nucleotide variant Retinal dystrophy [RCV001075059]|Retinitis pigmentosa 39 [RCV003455392]|Usher syndrome type 2A [RCV003455391]|not provided [RCV002554740] Chr1:216073098 [GRCh38]
Chr1:216246440 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10183-2A>G single nucleotide variant Retinal dystrophy [RCV001075061] Chr1:215786876 [GRCh38]
Chr1:215960218 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser) single nucleotide variant Retinal dystrophy [RCV001075198] Chr1:215674979 [GRCh38]
Chr1:215848321 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe) single nucleotide variant Retinal dystrophy [RCV001075203] Chr1:216217395 [GRCh38]
Chr1:216390737 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) single nucleotide variant Retinal dystrophy [RCV001073611]|Retinitis pigmentosa 39 [RCV003453626]|Retinitis pigmentosa [RCV000787741]|Usher syndrome [RCV003226391]|Usher syndrome type 2A [RCV001004145]|not provided [RCV001091130] Chr1:215879068 [GRCh38]
Chr1:216052410 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3584G>C (p.Cys1195Ser) single nucleotide variant not specified [RCV000825489] Chr1:216199854 [GRCh38]
Chr1:216373196 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2195G>T (p.Gly732Val) single nucleotide variant Retinitis pigmentosa 39 [RCV000786945] Chr1:216247199 [GRCh38]
Chr1:216420541 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11712-261C>A single nucleotide variant not provided [RCV000826670] Chr1:215728645 [GRCh38]
Chr1:215901987 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11174del (p.Phe3725fs) deletion Usher syndrome type 2A [RCV000786995] Chr1:215759717 [GRCh38]
Chr1:215933059 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453611]|Retinitis pigmentosa [RCV001099202]|Usher syndrome type 2A [RCV000778221]|not provided [RCV001049330] Chr1:216323678 [GRCh38]
Chr1:216497020 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1536C>T (p.Ile512=) single nucleotide variant not provided [RCV000882136] Chr1:216323488 [GRCh38]
Chr1:216496830 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.867C>T (p.Phe289=) single nucleotide variant not provided [RCV000896946] Chr1:216325581 [GRCh38]
Chr1:216498923 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454942]|Usher syndrome type 2A [RCV001277086]|not provided [RCV000902730] Chr1:216325401 [GRCh38]
Chr1:216498743 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=) single nucleotide variant Usher syndrome type 2A [RCV001271976]|not provided [RCV000885119] Chr1:215888873 [GRCh38]
Chr1:216062215 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8347C>T (p.Leu2783=) single nucleotide variant not provided [RCV000978250] Chr1:215878975 [GRCh38]
Chr1:216052317 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3811+9C>T single nucleotide variant not provided [RCV000979068] Chr1:216199618 [GRCh38]
Chr1:216372960 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11535A>G (p.Gln3845=) single nucleotide variant not provided [RCV000978648] Chr1:215743190 [GRCh38]
Chr1:215916532 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14532G>A (p.Thr4844=) single nucleotide variant Usher syndrome type 2A [RCV001832177]|not provided [RCV000944590] Chr1:215648578 [GRCh38]
Chr1:215821920 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11549-4C>T single nucleotide variant not provided [RCV000930764] Chr1:215741541 [GRCh38]
Chr1:215914883 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8211C>T (p.Pro2737=) single nucleotide variant not provided [RCV000978277] Chr1:215888438 [GRCh38]
Chr1:216061780 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13071A>C (p.Ser4357=) single nucleotide variant Retinal dystrophy [RCV001073809]|not provided [RCV000981604] Chr1:215674840 [GRCh38]
Chr1:215848182 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454933]|Usher syndrome type 2A [RCV001830954]|not provided [RCV000895530] Chr1:216073122 [GRCh38]
Chr1:216246464 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10741-9C>T single nucleotide variant not provided [RCV000928297] Chr1:215780050 [GRCh38]
Chr1:215953392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15432C>T (p.Ser5144=) single nucleotide variant Usher syndrome type 2A [RCV001271908]|not provided [RCV000977187] Chr1:215628901 [GRCh38]
Chr1:215802243 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3786A>G (p.Glu1262=) single nucleotide variant not provided [RCV000977237] Chr1:216199652 [GRCh38]
Chr1:216372994 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=) single nucleotide variant Usher syndrome type 2A [RCV001830950]|not provided [RCV000893875] Chr1:215640667 [GRCh38]
Chr1:215814009 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7203G>T (p.Gly2401=) single nucleotide variant Usher syndrome type 2A [RCV001278886]|not provided [RCV000976463] Chr1:215934713 [GRCh38]
Chr1:216108055 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6387A>G (p.Thr2129=) single nucleotide variant Retinitis pigmentosa 39 [RCV001578962]|Usher syndrome type 2A [RCV001578961]|not provided [RCV000915642] Chr1:216000501 [GRCh38]
Chr1:216173843 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454969]|Usher syndrome type 2A [RCV001827022]|not provided [RCV000944453] Chr1:215867065 [GRCh38]
Chr1:216040407 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10741-8G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446557]|Usher syndrome type 2A [RCV001274948]|not provided [RCV000961347] Chr1:215780049 [GRCh38]
Chr1:215953391 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn) single nucleotide variant Usher syndrome type 2A [RCV001832076]|not provided [RCV000918171] Chr1:216232026 [GRCh38]
Chr1:216405368 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=) single nucleotide variant Usher syndrome type 2A [RCV001274940]|not provided [RCV000979508] Chr1:215743259 [GRCh38]
Chr1:215916601 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-24CT[6] microsatellite not provided [RCV000980740] Chr1:215743342..215743347 [GRCh38]
Chr1:215916684..215916689 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15381G>T (p.Pro5127=) single nucleotide variant not provided [RCV000976728] Chr1:215628952 [GRCh38]
Chr1:215802294 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp) single nucleotide variant Retinal dystrophy [RCV001073349]|not provided [RCV000921025] Chr1:216073265 [GRCh38]
Chr1:216246607 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13935T>C (p.Ala4645=) single nucleotide variant not provided [RCV000941765] Chr1:215671170 [GRCh38]
Chr1:215844512 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3390G>T (p.Val1130=) single nucleotide variant not provided [RCV000979562] Chr1:216200048 [GRCh38]
Chr1:216373390 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2167+17A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446551]|Usher syndrome type 2A [RCV003446550]|not provided [RCV000943179]|not specified [RCV001001654] Chr1:216250886 [GRCh38]
Chr1:216424228 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3039C>T (p.Thr1013=) single nucleotide variant not provided [RCV000982686] Chr1:216217505 [GRCh38]
Chr1:216390847 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12696A>G (p.Pro4232=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454941]|Usher syndrome type 2A [RCV003454940]|not provided [RCV000901730] Chr1:215675215 [GRCh38]
Chr1:215848557 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.14583-6T>C single nucleotide variant not provided [RCV000982280] Chr1:215647736 [GRCh38]
Chr1:215821078 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6164-7T>C single nucleotide variant not provided [RCV000981581] Chr1:216046599 [GRCh38]
Chr1:216219941 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.432G>A (p.Leu144=) single nucleotide variant Usher syndrome type 2A [RCV001277092]|not provided [RCV000918339]|not specified [RCV001701252] Chr1:216421905 [GRCh38]
Chr1:216595247 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.6939T>C (p.Gly2313=) single nucleotide variant not provided [RCV000982530] Chr1:215970643 [GRCh38]
Chr1:216143985 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12393C>T (p.Thr4131=) single nucleotide variant not provided [RCV000931799] Chr1:215675518 [GRCh38]
Chr1:215848860 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5847A>G (p.Thr1949=) single nucleotide variant not provided [RCV000978582] Chr1:216072899 [GRCh38]
Chr1:216246241 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15053-10G>T single nucleotide variant not provided [RCV000978584] Chr1:215634713 [GRCh38]
Chr1:215808055 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12582C>T (p.Cys4194=) single nucleotide variant Usher syndrome type 2A [RCV001272952]|not provided [RCV000977499] Chr1:215675329 [GRCh38]
Chr1:215848671 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12067-10T>G single nucleotide variant not provided [RCV000979974] Chr1:215680386 [GRCh38]
Chr1:215853728 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3783A>G (p.Val1261=) single nucleotide variant Usher syndrome type 2A [RCV001832168]|not provided [RCV000943519] Chr1:216199655 [GRCh38]
Chr1:216372997 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9240C>T (p.Phe3080=) single nucleotide variant not provided [RCV000931967] Chr1:215844312 [GRCh38]
Chr1:216017654 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) single nucleotide variant Retinal dystrophy [RCV001073932]|Retinitis pigmentosa 39 [RCV001578965]|Usher syndrome type 2A [RCV001276971]|not provided [RCV000940905] Chr1:215888503 [GRCh38]
Chr1:216061845 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.732T>C (p.Gly244=) single nucleotide variant Usher syndrome type 2A [RCV001277088]|not provided [RCV000942069] Chr1:216365005 [GRCh38]
Chr1:216538347 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.13485T>A (p.Arg4495=) single nucleotide variant Usher syndrome type 2A [RCV001827080]|not provided [RCV000977612] Chr1:215674426 [GRCh38]
Chr1:215847768 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=) single nucleotide variant Usher syndrome type 2A [RCV001271983]|not provided [RCV000916730] Chr1:215900790 [GRCh38]
Chr1:216074132 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.9990T>C (p.Asn3330=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454963]|Usher syndrome type 2A [RCV003454962]|not provided [RCV000941058] Chr1:215790251 [GRCh38]
Chr1:215963593 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5271T>C (p.Tyr1757=) single nucleotide variant not provided [RCV000944356] Chr1:216083483 [GRCh38]
Chr1:216256825 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454927]|Usher syndrome type 2A [RCV001273052]|Usher syndrome type 2A [RCV002487939]|not provided [RCV000884162] Chr1:216097143 [GRCh38]
Chr1:216270485 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454975]|Usher syndrome type 2A [RCV001272931]|not provided [RCV000977188]|not specified [RCV001700682] Chr1:215647688 [GRCh38]
Chr1:215821030 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.5829T>C (p.Asp1943=) single nucleotide variant Usher syndrome type 2A [RCV001827026]|not provided [RCV000944851] Chr1:216072917 [GRCh38]
Chr1:216246259 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.705A>G (p.Thr235=) single nucleotide variant Usher syndrome type 2A [RCV001277090]|not provided [RCV000902588] Chr1:216365032 [GRCh38]
Chr1:216538374 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.768A>C (p.Ile256=) single nucleotide variant not provided [RCV000978805] Chr1:216364969 [GRCh38]
Chr1:216538311 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7812T>A (p.Thr2604=) single nucleotide variant not provided [RCV000924342] Chr1:215888837 [GRCh38]
Chr1:216062179 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9546C>T (p.His3182=) single nucleotide variant not provided [RCV000925708] Chr1:215817021 [GRCh38]
Chr1:215990363 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11859T>C (p.Ser3953=) single nucleotide variant Usher syndrome type 2A [RCV001274937]|not provided [RCV000919110] Chr1:215728237 [GRCh38]
Chr1:215901579 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.9372-4G>T single nucleotide variant not provided [RCV000942252] Chr1:215817199 [GRCh38]
Chr1:215990541 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12588G>A (p.Glu4196=) single nucleotide variant not provided [RCV000980424] Chr1:215675323 [GRCh38]
Chr1:215848665 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1369C>T (p.Leu457=) single nucleotide variant not provided [RCV000983174] Chr1:216323655 [GRCh38]
Chr1:216496997 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7896G>C (p.Leu2632=) single nucleotide variant not provided [RCV000927524] Chr1:215888753 [GRCh38]
Chr1:216062095 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9747A>G (p.Val3249=) single nucleotide variant not provided [RCV000930240] Chr1:215799118 [GRCh38]
Chr1:215972460 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.22T>C (p.Leu8=) single nucleotide variant Usher syndrome type 2A [RCV001832145]|not provided [RCV000939970] Chr1:216422315 [GRCh38]
Chr1:216595657 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2460T>C (p.Asn820=) single nucleotide variant Usher syndrome type 2A [RCV001275021]|not provided [RCV000981296] Chr1:216246934 [GRCh38]
Chr1:216420276 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.12702G>A (p.Thr4234=) single nucleotide variant not provided [RCV000981314] Chr1:215675209 [GRCh38]
Chr1:215848551 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8229T>C (p.Thr2743=) single nucleotide variant not provided [RCV000897886] Chr1:215879093 [GRCh38]
Chr1:216052435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=) single nucleotide variant Usher syndrome type 2A [RCV001278880]|not provided [RCV000894797] Chr1:215888684 [GRCh38]
Chr1:216062026 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6780C>G (p.Ser2260=) single nucleotide variant Usher syndrome type 2A [RCV001832292]|not provided [RCV000983218] Chr1:215993045 [GRCh38]
Chr1:216166387 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9220C>T (p.Leu3074=) single nucleotide variant Usher syndrome type 2A [RCV001827079]|not provided [RCV000977069] Chr1:215844332 [GRCh38]
Chr1:216017674 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8584C>T (p.Gln2862Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003461113]|not provided [RCV000799208] Chr1:215877855 [GRCh38]
Chr1:216051197 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7557A>G (p.Ala2519=) single nucleotide variant not provided [RCV000975765] Chr1:215900112 [GRCh38]
Chr1:216073454 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) single nucleotide variant Usher syndrome [RCV001171526]|Usher syndrome type 2A [RCV001271988]|not provided [RCV000841790] Chr1:215934749 [GRCh38]
Chr1:216108091 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) single nucleotide variant Usher syndrome type 2A [RCV001278875]|not provided [RCV000937130]|not specified [RCV001664556] Chr1:215813864 [GRCh38]
Chr1:215987206 [GRCh37]
Chr1:1q41
benign|likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.12585C>T (p.Phe4195=) single nucleotide variant Usher syndrome type 2A [RCV001830949]|not provided [RCV000893298] Chr1:215675326 [GRCh38]
Chr1:215848668 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7300+29A>G single nucleotide variant Usher syndrome type 2A [RCV001533608]|not provided [RCV000835851] Chr1:215934587 [GRCh38]
Chr1:216107929 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.486-1_625del deletion not provided [RCV000823574] Chr1:216418540..216418680 [GRCh38]
Chr1:216591882..216592022 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.553A>G (p.Met185Val) single nucleotide variant Inborn genetic diseases [RCV002536042]|not provided [RCV001226960]|not specified [RCV000825260] Chr1:216418612 [GRCh38]
Chr1:216591954 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7194C>T (p.Leu2398=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453739]|Usher syndrome type 2A [RCV003453738]|not provided [RCV002536043]|not specified [RCV000825262] Chr1:215934722 [GRCh38]
Chr1:216108064 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val) single nucleotide variant Congenital stationary night blindness [RCV000787925]|not provided [RCV002535762] Chr1:215779974 [GRCh38]
Chr1:215953316 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) single nucleotide variant Retinal dystrophy [RCV001074359]|Retinitis pigmentosa 39 [RCV003453625]|Retinitis pigmentosa [RCV000787723]|not provided [RCV001046264] Chr1:216323633 [GRCh38]
Chr1:216496975 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe) single nucleotide variant Retinitis pigmentosa [RCV000787744] Chr1:215817064 [GRCh38]
Chr1:215990406 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14838G>T (p.Val4946=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453740]|Usher syndrome type 2A [RCV001271913]|not provided [RCV001449024]|not specified [RCV000825263] Chr1:215640688 [GRCh38]
Chr1:215814030 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12624C>T (p.Asp4208=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453765]|Usher syndrome type 2A [RCV003453764]|not provided [RCV000839978] Chr1:215675287 [GRCh38]
Chr1:215848629 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3384_3417del (p.Asn1129fs) deletion not provided [RCV000821508] Chr1:216200021..216200054 [GRCh38]
Chr1:216373363..216373396 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6279T>C (p.Asp2093=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453751]|Usher syndrome type 2A [RCV003453750]|not provided [RCV000977411]|not specified [RCV000825850] Chr1:216046477 [GRCh38]
Chr1:216219819 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453752]|Usher syndrome type 2A [RCV001835983]|not provided [RCV000929869]|not specified [RCV000825852] Chr1:215889023 [GRCh38]
Chr1:216062365 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003467322]|Retinitis pigmentosa [RCV000787926]|not provided [RCV001873212] Chr1:215838016 [GRCh38]
Chr1:216011358 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) single nucleotide variant Inborn genetic diseases [RCV002538218]|Retinitis pigmentosa 39 [RCV003453741]|Usher syndrome type 2A [RCV001830839]|not provided [RCV001241326]|not specified [RCV000825487] Chr1:216196635 [GRCh38]
Chr1:216369977 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr) single nucleotide variant Usher syndrome type 2A [RCV001273707]|not provided [RCV001038198]|not specified [RCV000825495] Chr1:215845832 [GRCh38]
Chr1:216019174 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7300+43C>T single nucleotide variant Usher syndrome type 2A [RCV001533607]|not provided [RCV000836385] Chr1:215934573 [GRCh38]
Chr1:216107915 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003453722]|Usher syndrome type 2A [RCV001276249]|Usher syndrome type 2A [RCV002507436]|not provided [RCV000819794] Chr1:216078332 [GRCh38]
Chr1:216251674 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10182G>A (p.Lys3394=) single nucleotide variant not provided [RCV000993533] Chr1:215790059 [GRCh38]
Chr1:215963401 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8271T>G (p.Tyr2757Ter) single nucleotide variant USH2A-Related Disorders [RCV000790914] Chr1:215879051 [GRCh38]
Chr1:216052393 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro) single nucleotide variant Usher syndrome type 2A [RCV001830845]|not specified [RCV000826075] Chr1:215741490 [GRCh38]
Chr1:215914832 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003453756]|Usher syndrome type 2A [RCV001830847]|Usher syndrome type 2A [RCV002495194]|not provided [RCV002536080]|not specified [RCV000826077] Chr1:215993101 [GRCh38]
Chr1:216166443 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10939+10C>A single nucleotide variant not provided [RCV000960226] Chr1:215779833 [GRCh38]
Chr1:215953175 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) single nucleotide variant Retinal dystrophy [RCV001075373]|Retinitis pigmentosa 39 [RCV003453758]|Usher syndrome type 2A [RCV003453757]|not provided [RCV001858416]|not specified [RCV000826081] Chr1:216078157 [GRCh38]
Chr1:216251499 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9371+245C>T single nucleotide variant not provided [RCV000838524] Chr1:215837746 [GRCh38]
Chr1:216011088 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9958+246A>C single nucleotide variant not provided [RCV000838526] Chr1:215798661 [GRCh38]
Chr1:215972003 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5298+188T>G single nucleotide variant not provided [RCV000838527] Chr1:216083268 [GRCh38]
Chr1:216256610 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15003A>G (p.Glu5001=) single nucleotide variant not provided [RCV000891931] Chr1:215639204 [GRCh38]
Chr1:215812546 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13811+7A>G single nucleotide variant not provided [RCV000976404] Chr1:215674093 [GRCh38]
Chr1:215847435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4603dup (p.His1535fs) duplication Usher syndrome type 2A [RCV000986537] Chr1:216175275..216175276 [GRCh38]
Chr1:216348617..216348618 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6325+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003461145]|Usher syndrome type 2A [RCV001830736]|not provided [RCV000803457] Chr1:216046430 [GRCh38]
Chr1:216219772 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8845+382A>G single nucleotide variant not provided [RCV000826667] Chr1:215866625 [GRCh38]
Chr1:216039967 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11231+259A>C single nucleotide variant not provided [RCV000826669] Chr1:215759401 [GRCh38]
Chr1:215932743 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) single nucleotide variant Retinal dystrophy [RCV001075631]|Usher syndrome type 2A [RCV001830848]|not provided [RCV001361727]|not specified [RCV000826080] Chr1:215674481 [GRCh38]
Chr1:215847823 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.5764C>T (p.Gln1922Ter) single nucleotide variant not provided [RCV000818477] Chr1:216073109 [GRCh38]
Chr1:216246451 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003467553]|not provided [RCV000994252] Chr1:216323493 [GRCh38]
Chr1:216496835 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1116A>T (p.Ser372=) single nucleotide variant Retinitis pigmentosa 39 [RCV003455030]|Usher syndrome type 2A [RCV003455029]|not provided [RCV000994254] Chr1:216325332 [GRCh38]
Chr1:216498674 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2810-294G>T single nucleotide variant not provided [RCV000826665] Chr1:216232430 [GRCh38]
Chr1:216405772 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4628-63C>T single nucleotide variant Usher syndrome type 2A [RCV001533610]|not provided [RCV000833522] Chr1:216097276 [GRCh38]
Chr1:216270618 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12794del (p.Gly4265fs) deletion not provided [RCV000813244] Chr1:215675117 [GRCh38]
Chr1:215848459 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q41(chr1:216208820-216274814)x1 copy number loss not provided [RCV001005172] Chr1:216208820..216274814 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7595-1906T>A single nucleotide variant not provided [RCV000831722] Chr1:215890960 [GRCh38]
Chr1:216064302 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3004del (p.Cys1002fs) deletion not provided [RCV000809453] Chr1:216217540 [GRCh38]
Chr1:216390882 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys) single nucleotide variant Retinitis pigmentosa [RCV000787730]|not provided [RCV001370945] Chr1:216196658 [GRCh38]
Chr1:216370000 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter) single nucleotide variant Retinitis pigmentosa [RCV000787735] Chr1:216078188 [GRCh38]
Chr1:216251530 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3788G>A (p.Trp1263Ter) single nucleotide variant not provided [RCV000793284] Chr1:216199650 [GRCh38]
Chr1:216372992 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10585+143A>C single nucleotide variant Usher syndrome type 2A [RCV001532786]|not provided [RCV000838496] Chr1:215782595 [GRCh38]
Chr1:215955937 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10585+211A>G single nucleotide variant not provided [RCV000838497] Chr1:215782527 [GRCh38]
Chr1:215955869 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11389+233A>G single nucleotide variant not provided [RCV000838498] Chr1:215758362 [GRCh38]
Chr1:215931704 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453624]|Retinitis pigmentosa [RCV000787719]|Usher syndrome type 2A [RCV001198125]|not provided [RCV002535755] Chr1:215728382 [GRCh38]
Chr1:215901724 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:216212155-216234471)x1 copy number loss not provided [RCV000848776] Chr1:216212155..216234471 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile) single nucleotide variant Retinitis pigmentosa [RCV000787720] Chr1:215680282 [GRCh38]
Chr1:215853624 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13811+72G>A single nucleotide variant not provided [RCV000839176] Chr1:215674028 [GRCh38]
Chr1:215847370 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter) single nucleotide variant Retinitis pigmentosa [RCV001731926] Chr1:215671157 [GRCh38]
Chr1:215844499 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12895A>C (p.Arg4299=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453737]|Usher syndrome type 2A [RCV003453736]|not provided [RCV001401701]|not specified [RCV000825261] Chr1:215675016 [GRCh38]
Chr1:215848358 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) single nucleotide variant Retinitis pigmentosa 39 [RCV001578969]|Usher syndrome type 2A [RCV000785178]|not provided [RCV002535724] Chr1:216321956 [GRCh38]
Chr1:216495298 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12854G>A (p.Trp4285Ter) single nucleotide variant not provided [RCV000814161] Chr1:215675057 [GRCh38]
Chr1:215848399 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10318del (p.Ile3440fs) deletion Retinitis pigmentosa 39 [RCV001376441]|not provided [RCV000799883] Chr1:215786739 [GRCh38]
Chr1:215960081 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) single nucleotide variant Usher syndrome type 2A [RCV001272939]|not provided [RCV001428720]|not specified [RCV000826073] Chr1:215671036 [GRCh38]
Chr1:215844378 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3157+254G>A single nucleotide variant not provided [RCV000826666] Chr1:216217133 [GRCh38]
Chr1:216390475 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11048-275G>A single nucleotide variant not provided [RCV000826668] Chr1:215760118 [GRCh38]
Chr1:215933460 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys) single nucleotide variant Retinal dystrophy [RCV001073837]|Retinitis pigmentosa 39 [RCV003445719]|Usher syndrome [RCV002298551]|Usher syndrome type 2A [RCV000986539]|not provided [RCV001857783] Chr1:216200070 [GRCh38]
Chr1:216373412 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8846-88del deletion not provided [RCV000839024] Chr1:215846121 [GRCh38]
Chr1:216019463 [GRCh37]
Chr1:1q41
likely benign
NC_000001.11:g.(?_216078079)_(216078372_?)del deletion not provided [RCV000801980] Chr1:216078079..216078372 [GRCh38]
Chr1:216251421..216251714 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3660A>G (p.Val1220=) single nucleotide variant Retinitis pigmentosa [RCV001098832]|Usher syndrome type 2A [RCV001098831]|not provided [RCV001421393] Chr1:216199778 [GRCh38]
Chr1:216373120 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe) single nucleotide variant Usher syndrome type 2A [RCV001274242]|not provided [RCV001055904] Chr1:215900795 [GRCh38]
Chr1:216074137 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6990del (p.Gly2331fs) deletion not provided [RCV001091132] Chr1:215965447 [GRCh38]
Chr1:216138789 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) single nucleotide variant Usher syndrome type 2A [RCV003455064]|not provided [RCV001007965] Chr1:216250997 [GRCh38]
Chr1:216424339 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3224_3225dup (p.Pro1076fs) duplication not provided [RCV000793800] Chr1:216207363..216207364 [GRCh38]
Chr1:216380705..216380706 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5158del (p.Phe1719_Leu1720insTer) deletion not provided [RCV000822845] Chr1:216084707 [GRCh38]
Chr1:216258049 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8077T>C (p.Trp2693Arg) single nucleotide variant not provided [RCV001057057] Chr1:215888572 [GRCh38]
Chr1:216061914 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2146A>T (p.Lys716Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003473664]|Usher syndrome type 2 [RCV002307669]|not provided [RCV001058203] Chr1:216250924 [GRCh38]
Chr1:216424266 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp) single nucleotide variant Usher syndrome type 2A [RCV001276956]|not provided [RCV001057309] Chr1:215799093 [GRCh38]
Chr1:215972435 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) single nucleotide variant Retinal dystrophy [RCV001074615]|Retinitis pigmentosa 39 [RCV001328877]|Usher syndrome type 2A [RCV000986514]|not provided [RCV001041834] Chr1:215628953 [GRCh38]
Chr1:215802295 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2809+1G>A single nucleotide variant Retinal dystrophy [RCV001075468]|Retinitis pigmentosa 39 [RCV003446564]|Usher syndrome [RCV003230611]|Usher syndrome type 2A [RCV000986541]|not provided [RCV001858646] Chr1:216246584 [GRCh38]
Chr1:216419926 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003467540]|Usher syndrome type 2A [RCV000986548]|not provided [RCV001869337] Chr1:216323477 [GRCh38]
Chr1:216496819 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3686T>G (p.Leu1229Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003455444]|USH2A-Related Disorders [RCV001095691]|Usher syndrome type 2A [RCV003455443]|not provided [RCV001231261] Chr1:216199752 [GRCh38]
Chr1:216373094 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4627+981T>A single nucleotide variant Retinitis pigmentosa [RCV001096787]|Usher syndrome type 2A [RCV001096788] Chr1:216174271 [GRCh38]
Chr1:216347613 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13882C>G (p.Pro4628Ala) single nucleotide variant not specified [RCV000825488] Chr1:215671223 [GRCh38]
Chr1:215844565 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003453744]|Usher syndrome type 2A [RCV001330639]|not specified [RCV000825491] Chr1:216175443 [GRCh38]
Chr1:216348785 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9814C>T (p.Pro3272Ser) single nucleotide variant not specified [RCV000825492] Chr1:215799051 [GRCh38]
Chr1:215972393 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003453745]|Usher syndrome type 2A [RCV001276256]|not provided [RCV002538220]|not specified [RCV000825493] Chr1:216175321 [GRCh38]
Chr1:216348663 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003453746]|Usher syndrome type 2A [RCV001825681]|not provided [RCV001858396]|not specified [RCV000825494] Chr1:215674772 [GRCh38]
Chr1:215848114 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2680T>G (p.Phe894Val) single nucleotide variant not provided [RCV001052522] Chr1:216246714 [GRCh38]
Chr1:216420056 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) single nucleotide variant Inborn genetic diseases [RCV002538242]|Retinitis pigmentosa 39 [RCV003453755]|Usher syndrome type 2A [RCV001830846]|not provided [RCV001038297]|not specified [RCV000826076] Chr1:215675014 [GRCh38]
Chr1:215848356 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2031G>T (p.Gln677His) single nucleotide variant Retinitis pigmentosa 39 [RCV003455451]|Retinitis pigmentosa [RCV001097281]|Usher syndrome type 2A [RCV001097280]|not provided [RCV002554908] Chr1:216251039 [GRCh38]
Chr1:216424381 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) single nucleotide variant Retinitis pigmentosa [RCV001199800]|not provided [RCV000994249] Chr1:216073279 [GRCh38]
Chr1:216246621 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.1241A>G (p.Tyr414Cys) single nucleotide variant not provided [RCV000994253] Chr1:216324255 [GRCh38]
Chr1:216497597 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+850C>T single nucleotide variant Retinitis pigmentosa [RCV001098538]|Usher syndrome type 2A [RCV001098539] Chr1:216174402 [GRCh38]
Chr1:216347744 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9781G>C (p.Val3261Leu) single nucleotide variant not provided [RCV001053647] Chr1:215799084 [GRCh38]
Chr1:215972426 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9372-4G>A single nucleotide variant not provided [RCV000994246] Chr1:215817199 [GRCh38]
Chr1:215990541 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003455455]|Retinitis pigmentosa [RCV001098725]|Usher syndrome type 2A [RCV001098724]|not provided [RCV002557997] Chr1:216190249 [GRCh38]
Chr1:216363591 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12202G>T (p.Gly4068Ter) single nucleotide variant not provided [RCV001054985] Chr1:215680241 [GRCh38]
Chr1:215853583 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15403del (p.Thr5135fs) deletion Retinitis pigmentosa 39 [RCV003467456]|not provided [RCV000812042] Chr1:215628930 [GRCh38]
Chr1:215802272 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215914707)_(215933195_?)dup duplication not provided [RCV000813319] Chr1:215741365..215759853 [GRCh38]
Chr1:215914707..215933195 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2643G>A (p.Gln881=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453767]|Usher syndrome type 2A [RCV003453766]|not provided [RCV000840178] Chr1:216246751 [GRCh38]
Chr1:216420093 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454967]|Usher syndrome type 2A [RCV001832160]|not provided [RCV000941855] Chr1:215675314 [GRCh38]
Chr1:215848656 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.3327C>T (p.Tyr1109=) single nucleotide variant Usher syndrome type 2A [RCV001275019]|not provided [RCV000941086] Chr1:216200111 [GRCh38]
Chr1:216373453 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.9958+4171T>C single nucleotide variant not provided [RCV000830793] Chr1:215794736 [GRCh38]
Chr1:215968078 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6801G>A (p.Pro2267=) single nucleotide variant Retinal dystrophy [RCV001074935]|not provided [RCV000921094] Chr1:215993024 [GRCh38]
Chr1:216166366 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=) single nucleotide variant Usher syndrome type 2A [RCV001271982]|not provided [RCV000961348] Chr1:215900778 [GRCh38]
Chr1:216074120 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5748T>G (p.Val1916=) single nucleotide variant not provided [RCV000981087] Chr1:216073125 [GRCh38]
Chr1:216246467 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg) single nucleotide variant Retinitis pigmentosa [RCV001731927]|not provided [RCV002535764] Chr1:216365065 [GRCh38]
Chr1:216538407 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly) single nucleotide variant Retinitis pigmentosa [RCV000787743] Chr1:215837992 [GRCh38]
Chr1:216011334 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1011T>C (p.Pro337=) single nucleotide variant Usher syndrome type 2A [RCV001277087]|not provided [RCV000895189] Chr1:216325437 [GRCh38]
Chr1:216498779 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13947C>T (p.Phe4649=) single nucleotide variant not provided [RCV000981122] Chr1:215671158 [GRCh38]
Chr1:215844500 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454979]|Usher syndrome type 2A [RCV001271987]|not provided [RCV000978002] Chr1:215934689 [GRCh38]
Chr1:216108031 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003453743]|Usher syndrome type 2A [RCV003453742]|not provided [RCV002538219]|not specified [RCV000825490] Chr1:215889016 [GRCh38]
Chr1:216062358 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) single nucleotide variant Retinal dystrophy [RCV001075264]|Retinitis pigmentosa 39 [RCV003453749]|Usher syndrome type 2A [RCV001274243]|not provided [RCV001869268]|not specified [RCV000825650] Chr1:215900819 [GRCh38]
Chr1:216074161 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly) single nucleotide variant Usher syndrome type 2A [RCV001274941]|not provided [RCV001304559]|not specified [RCV000825848] Chr1:215743282 [GRCh38]
Chr1:215916624 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1299T>C (p.Pro433=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453754]|Usher syndrome type 2A [RCV003453753]|not provided [RCV001479811]|not specified [RCV000825853] Chr1:216324197 [GRCh38]
Chr1:216497539 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly) single nucleotide variant Retinitis pigmentosa [RCV000787721] Chr1:215674788 [GRCh38]
Chr1:215848130 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) single nucleotide variant Retinitis pigmentosa [RCV000787900]|not provided [RCV002535760]|not specified [RCV003330950] Chr1:215790231 [GRCh38]
Chr1:215963573 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.2169G>A (p.Gly723=) single nucleotide variant Retinitis pigmentosa 39 [RCV003453769]|Usher syndrome type 2A [RCV003453768]|not provided [RCV000841488] Chr1:216247225 [GRCh38]
Chr1:216420567 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-282C>A single nucleotide variant not provided [RCV000826648] Chr1:216247508 [GRCh38]
Chr1:216420850 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1107G>A (p.Val369=) single nucleotide variant not provided [RCV000981293] Chr1:216325341 [GRCh38]
Chr1:216498683 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+7A>T single nucleotide variant not provided [RCV000981294] Chr1:215758588 [GRCh38]
Chr1:215931930 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=) single nucleotide variant Usher syndrome type 2A [RCV001832283]|not provided [RCV000981302] Chr1:215728051 [GRCh38]
Chr1:215901393 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10183-260A>C single nucleotide variant not provided [RCV000831723] Chr1:215787134 [GRCh38]
Chr1:215960476 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10585+267A>G single nucleotide variant not provided [RCV000831724] Chr1:215782471 [GRCh38]
Chr1:215955813 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-52AT[9] microsatellite not provided [RCV000838499] Chr1:215743371..215743372 [GRCh38]
Chr1:215916713..215916714 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14826C>A (p.Ser4942Arg) single nucleotide variant not provided [RCV003239055] Chr1:215640700 [GRCh38]
Chr1:215814042 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1228G>T (p.Glu410Ter) single nucleotide variant not provided [RCV000797443] Chr1:216324268 [GRCh38]
Chr1:216497610 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=) single nucleotide variant Usher syndrome type 2A [RCV001271994]|not provided [RCV000941611] Chr1:215993084 [GRCh38]
Chr1:216166426 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup duplication Usher syndrome [RCV000787757]   likely pathogenic
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala) single nucleotide variant Retinitis pigmentosa [RCV000787732] Chr1:216084856 [GRCh38]
Chr1:216258198 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr) single nucleotide variant Retinitis pigmentosa [RCV000787733] Chr1:216084791 [GRCh38]
Chr1:216258133 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8846-4A>G single nucleotide variant not provided [RCV000979800] Chr1:215846037 [GRCh38]
Chr1:216019379 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12976T>C (p.Phe4326Leu) single nucleotide variant not provided [RCV003239142] Chr1:215674935 [GRCh38]
Chr1:215848277 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1645-8del deletion Retinitis pigmentosa 39 [RCV003446480]|Usher syndrome type 2A [RCV003446479]|not provided [RCV000841278] Chr1:216292378 [GRCh38]
Chr1:216465720 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003473510]|Usher syndrome type 2A [RCV001830806]|not provided [RCV000820938] Chr1:215813799 [GRCh38]
Chr1:215987141 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7594+128C>A single nucleotide variant not provided [RCV000836071] Chr1:215899947 [GRCh38]
Chr1:216073289 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11220G>A (p.Glu3740=) single nucleotide variant not provided [RCV000977622] Chr1:215759671 [GRCh38]
Chr1:215933013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14889G>A (p.Glu4963=) single nucleotide variant not provided [RCV000938739] Chr1:215640637 [GRCh38]
Chr1:215813979 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6597T>A (p.Leu2199=) single nucleotide variant not provided [RCV001091133] Chr1:215998947 [GRCh38]
Chr1:216172289 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+442C>G single nucleotide variant Retinitis pigmentosa [RCV001096873]|Usher syndrome type 2A [RCV001096872] Chr1:216174810 [GRCh38]
Chr1:216348152 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala) single nucleotide variant Retinitis pigmentosa [RCV001098931]|Usher syndrome type 2A [RCV001098932] Chr1:216232110 [GRCh38]
Chr1:216405452 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.-204-15G>A single nucleotide variant Retinitis pigmentosa [RCV001095860]|Usher syndrome type 2A [RCV001095859] Chr1:216422555 [GRCh38]
Chr1:216595897 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14439_14454del (p.Asn4812_Cys4813insTer) deletion Retinitis pigmentosa 39 [RCV003462635]|not provided [RCV001090612] Chr1:215648656..215648671 [GRCh38]
Chr1:215821998..215822013 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003455012]|Usher syndrome type 2A [RCV001832311]|not provided [RCV000993535] Chr1:215786699 [GRCh38]
Chr1:215960041 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His) single nucleotide variant Usher syndrome type 2A [RCV001827140]|Usher syndrome type 2A [RCV002481758]|not provided [RCV000993537] Chr1:215675567 [GRCh38]
Chr1:215848909 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11473del (p.His3825fs) deletion Retinitis pigmentosa 39 [RCV003467586]|Usher syndrome [RCV003389482]|Usher syndrome type 2A [RCV003338901]|not provided [RCV001008825] Chr1:215743252 [GRCh38]
Chr1:215916594 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.458G>T (p.Trp153Leu) single nucleotide variant not provided [RCV001055607] Chr1:216421879 [GRCh38]
Chr1:216595221 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003455255]|Usher syndrome type 2A [RCV001276151]|Usher syndrome type 2A [RCV002482016]|not provided [RCV001056600] Chr1:215650782 [GRCh38]
Chr1:215824124 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q41(chr1:216355508-216417771)x1 copy number loss not provided [RCV000848196] Chr1:216355508..216417771 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2037A>C (p.Gly679=) single nucleotide variant not provided [RCV000976046] Chr1:216251033 [GRCh38]
Chr1:216424375 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.781_784+1375del deletion not provided [RCV001062291] Chr1:216363578..216364956 [GRCh38]
Chr1:216536920..216538298 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7473A>G (p.Ala2491=) single nucleotide variant not provided [RCV000976201] Chr1:215900196 [GRCh38]
Chr1:216073538 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003473529]|Usher syndrome type 2A [RCV000986523]|not provided [RCV001247865] Chr1:215786672 [GRCh38]
Chr1:215960014 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2184T>C (p.His728=) single nucleotide variant not provided [RCV000975634] Chr1:216247210 [GRCh38]
Chr1:216420552 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7197C>T (p.Ile2399=) single nucleotide variant Retinitis pigmentosa 39 [RCV003455028]|Usher syndrome type 2A [RCV003455027]|not provided [RCV000994248] Chr1:215934719 [GRCh38]
Chr1:216108061 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter) single nucleotide variant not provided [RCV001907542] Chr1:215888647 [GRCh38]
Chr1:216061989 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) single nucleotide variant Retinal dystrophy [RCV001074070]|Retinitis pigmentosa 39 [RCV003455025]|Usher syndrome type 2A [RCV001827144]|not provided [RCV000994244] Chr1:215674427 [GRCh38]
Chr1:215847769 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4081+1G>A single nucleotide variant not provided [RCV001963947] Chr1:216198314 [GRCh38]
Chr1:216371656 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) single nucleotide variant Usher syndrome type 2A [RCV002462254]|not provided [RCV001008020] Chr1:215648745 [GRCh38]
Chr1:215822087 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5977A>T (p.Ser1993Cys) single nucleotide variant not provided [RCV001211647] Chr1:216070173 [GRCh38]
Chr1:216243515 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6805+195T>G single nucleotide variant Usher syndrome type 2A [RCV001195910] Chr1:215992825 [GRCh38]
Chr1:216166167 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr) single nucleotide variant Retinitis pigmentosa [RCV001249898]|Usher syndrome type 2A [RCV001836188]|not provided [RCV001232520] Chr1:216247064 [GRCh38]
Chr1:216420406 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly) single nucleotide variant Retinitis pigmentosa [RCV001249897] Chr1:216048594 [GRCh38]
Chr1:216221936 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14807C>A (p.Ala4936Asp) single nucleotide variant not provided [RCV001228676] Chr1:215640719 [GRCh38]
Chr1:215814061 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14791+1G>A single nucleotide variant not provided [RCV001211020] Chr1:215647521 [GRCh38]
Chr1:215820863 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14007T>A (p.Tyr4669Ter) single nucleotide variant not provided [RCV001228589] Chr1:215671098 [GRCh38]
Chr1:215844440 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His) single nucleotide variant Usher syndrome type 2A [RCV000986517] Chr1:215675199 [GRCh38]
Chr1:215848541 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11389+1G>A single nucleotide variant Usher syndrome type 2A [RCV000986521]|not provided [RCV001062300] Chr1:215758594 [GRCh38]
Chr1:215931936 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8628G>A (p.Trp2876Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003462680]|not provided [RCV001202936] Chr1:215877811 [GRCh38]
Chr1:216051153 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7231C>T (p.Gln2411Ter) single nucleotide variant not provided [RCV001058514] Chr1:215934685 [GRCh38]
Chr1:216108027 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003449801]|Usher syndrome type 2A [RCV001835336]|Usher syndrome type 2A [RCV002480857]|not provided [RCV001248422] Chr1:216422149 [GRCh38]
Chr1:216595491 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1971+1G>T single nucleotide variant not provided [RCV001231118] Chr1:216289279 [GRCh38]
Chr1:216462621 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8224-1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003469357]|not provided [RCV001213552] Chr1:215879099 [GRCh38]
Chr1:216052441 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) single nucleotide variant Usher syndrome type 2A [RCV001272934]|not provided [RCV000994243] Chr1:215648697 [GRCh38]
Chr1:215822039 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) microsatellite Retinal dystrophy [RCV001074944]|Retinitis pigmentosa 39 [RCV003455031]|Retinitis pigmentosa [RCV001199578]|Usher syndrome type 2A [RCV002286426]|not provided [RCV000994255] Chr1:216325454..216325455 [GRCh38]
Chr1:216498796..216498797 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) single nucleotide variant not specified [RCV001002567] Chr1:215779848 [GRCh38]
Chr1:215953190 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003467808]|Usher syndrome type 2A [RCV003455273]|not provided [RCV001060442] Chr1:215779962 [GRCh38]
Chr1:215953304 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.7297G>A (p.Gly2433Arg) single nucleotide variant not provided [RCV000994247] Chr1:215934619 [GRCh38]
Chr1:216107961 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:216173745-216500996)x1 copy number loss not provided [RCV000994339] Chr1:216173745..216500996 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001376437]|Usher syndrome type 2 [RCV001199585]|Usher syndrome type 2A [RCV003455052] Chr1:215647552 [GRCh38]
Chr1:215820894 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter) single nucleotide variant Usher syndrome type 2 [RCV001199593] Chr1:215813793 [GRCh38]
Chr1:215987135 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr) single nucleotide variant Usher syndrome type 2 [RCV001199594] Chr1:216418590 [GRCh38]
Chr1:216591932 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr) single nucleotide variant Usher syndrome type 2 [RCV001199804] Chr1:216365069 [GRCh38]
Chr1:216538411 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn) single nucleotide variant Retinitis pigmentosa [RCV001199795]|not provided [RCV002549233] Chr1:216199746 [GRCh38]
Chr1:216373088 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del) deletion Usher syndrome type 2 [RCV001199786] Chr1:215671080..215671094 [GRCh38]
Chr1:215844422..215844436 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10040A>G (p.His3347Arg) single nucleotide variant not provided [RCV001247457] Chr1:215790201 [GRCh38]
Chr1:215963543 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg) single nucleotide variant Retinitis pigmentosa [RCV001249900] Chr1:216418678 [GRCh38]
Chr1:216592020 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp) single nucleotide variant Inborn genetic diseases [RCV002568689]|Retinitis pigmentosa 39 [RCV003449803]|Usher syndrome type 2A [RCV001830050]|not provided [RCV001248692] Chr1:215648712 [GRCh38]
Chr1:215822054 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe) single nucleotide variant Usher syndrome type 2A [RCV001828642]|not provided [RCV001204648] Chr1:215674689 [GRCh38]
Chr1:215848031 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14880_14881insGA (p.Leu4961fs) insertion not provided [RCV001204649] Chr1:215640645..215640646 [GRCh38]
Chr1:215813987..215813988 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys) single nucleotide variant Usher syndrome type 2A [RCV001835337]|not provided [RCV001248423] Chr1:216070260 [GRCh38]
Chr1:216243602 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15371del (p.Leu5124fs) deletion Retinitis pigmentosa 39 [RCV003449706]|Usher syndrome type 2A [RCV002497762]|Usher syndrome type 2A [RCV003449705]|not provided [RCV001223561] Chr1:215628962 [GRCh38]
Chr1:215802304 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer) deletion Retinitis pigmentosa [RCV001199788] Chr1:215640631 [GRCh38]
Chr1:215813973 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr) single nucleotide variant Usher syndrome type 2A [RCV001828799]|not provided [RCV001225743] Chr1:215786849 [GRCh38]
Chr1:215960191 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12499A>G (p.Lys4167Glu) single nucleotide variant not provided [RCV001226771] Chr1:215675412 [GRCh38]
Chr1:215848754 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3403A>G (p.Arg1135Gly) single nucleotide variant not provided [RCV001233244] Chr1:216200035 [GRCh38]
Chr1:216373377 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5549A>G (p.Tyr1850Cys) single nucleotide variant not provided [RCV001209143] Chr1:216078112 [GRCh38]
Chr1:216251454 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.637C>T (p.His213Tyr) single nucleotide variant Retinitis pigmentosa [RCV001249899] Chr1:216418528 [GRCh38]
Chr1:216591870 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr) single nucleotide variant Usher syndrome type 2A [RCV001829022]|not provided [RCV001243355] Chr1:215648676 [GRCh38]
Chr1:215822018 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10324G>T (p.Glu3442Ter) single nucleotide variant not provided [RCV001233389] Chr1:215786733 [GRCh38]
Chr1:215960075 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4243T>C (p.Phe1415Leu) single nucleotide variant not provided [RCV001204992] Chr1:216196561 [GRCh38]
Chr1:216369903 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu) single nucleotide variant Usher syndrome type 2A [RCV001828911]|not provided [RCV001238994] Chr1:215993114 [GRCh38]
Chr1:216166456 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.652-2A>G single nucleotide variant not provided [RCV001224200] Chr1:216365087 [GRCh38]
Chr1:216538429 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14791+4A>G single nucleotide variant not provided [RCV001214301] Chr1:215647518 [GRCh38]
Chr1:215820860 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13700T>G (p.Leu4567Arg) single nucleotide variant not provided [RCV001237746] Chr1:215674211 [GRCh38]
Chr1:215847553 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys) single nucleotide variant Usher syndrome type 2A [RCV001833917]|not provided [RCV001220999] Chr1:215799031 [GRCh38]
Chr1:215972373 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7873G>T (p.Glu2625Ter) single nucleotide variant not provided [RCV001206220] Chr1:215888776 [GRCh38]
Chr1:216062118 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1679C>A (p.Pro560His) single nucleotide variant not provided [RCV001237149] Chr1:216292336 [GRCh38]
Chr1:216465678 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10845_10851del (p.Ser3616fs) deletion not provided [RCV001208926] Chr1:215779931..215779937 [GRCh38]
Chr1:215953273..215953279 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003449741]|Usher syndrome type 2A [RCV001834101]|not provided [RCV001239687] Chr1:216199995 [GRCh38]
Chr1:216373337 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln) single nucleotide variant Usher syndrome type 2A [RCV001828934]|not provided [RCV001239748]|not specified [RCV003479301] Chr1:215782872 [GRCh38]
Chr1:215956214 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1995_2002dup (p.Val668fs) duplication not provided [RCV001223242] Chr1:216251067..216251068 [GRCh38]
Chr1:216424409..216424410 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) single nucleotide variant Retinitis pigmentosa 39 [RCV001376450]|Usher syndrome type 2A [RCV001834098]|not provided [RCV001239617] Chr1:215970653 [GRCh38]
Chr1:216143995 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.5678C>G (p.Ser1893Ter) single nucleotide variant not provided [RCV001223095] Chr1:216073195 [GRCh38]
Chr1:216246537 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9959-4159A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003469394]|not provided [RCV001224891] Chr1:215794441 [GRCh38]
Chr1:215967783 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln) single nucleotide variant Usher syndrome type 2A [RCV001833961]|not provided [RCV001226998] Chr1:215671126 [GRCh38]
Chr1:215844468 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.9638del (p.Pro3213fs) deletion Retinitis pigmentosa 39 [RCV003462777]|not provided [RCV001227039] Chr1:215813837 [GRCh38]
Chr1:215987179 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys) single nucleotide variant Usher syndrome type 2A [RCV001833840]|not provided [RCV001209329] Chr1:216418600 [GRCh38]
Chr1:216591942 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu) single nucleotide variant Usher syndrome type 2A [RCV001834110]|not provided [RCV001239974] Chr1:216325549 [GRCh38]
Chr1:216498891 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser) single nucleotide variant Usher syndrome type 2A [RCV001828681]|not provided [RCV001209563] Chr1:215888697 [GRCh38]
Chr1:216062039 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer) microsatellite Retinitis pigmentosa 39 [RCV003473776]|Usher syndrome type 2A [RCV003449696]|not provided [RCV001221114] Chr1:216247002..216247003 [GRCh38]
Chr1:216420344..216420345 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser) single nucleotide variant Usher syndrome type 2A [RCV001835154]|not provided [RCV001243108] Chr1:215674106 [GRCh38]
Chr1:215847448 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn) single nucleotide variant Usher syndrome type 2A [RCV001836219]|not provided [RCV001243109] Chr1:215888769 [GRCh38]
Chr1:216062111 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14140G>T (p.Ala4714Ser) single nucleotide variant not provided [RCV001237824] Chr1:215650795 [GRCh38]
Chr1:215824137 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.598G>C (p.Val200Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003449659]|Usher syndrome type 2A [RCV003449658]|not provided [RCV001209577] Chr1:216418567 [GRCh38]
Chr1:216591909 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7280C>A (p.Thr2427Lys) single nucleotide variant not provided [RCV001237978] Chr1:215934636 [GRCh38]
Chr1:216107978 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14222C>T (p.Pro4741Leu) single nucleotide variant not provided [RCV001241571] Chr1:215650713 [GRCh38]
Chr1:215824055 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003449766]|Usher syndrome type 2A [RCV001829034]|not provided [RCV001243541] Chr1:215639163 [GRCh38]
Chr1:215812505 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003449697]|Usher syndrome type 2A [RCV001828765]|Usher syndrome type 2A [RCV002504277]|not provided [RCV001221400] Chr1:215674944 [GRCh38]
Chr1:215848286 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1618C>T (p.Gln540Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003462702]|not provided [RCV001209939] Chr1:216321909 [GRCh38]
Chr1:216495251 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003449653]|Usher syndrome type 2A [RCV001836140]|not provided [RCV001207049] Chr1:215867111 [GRCh38]
Chr1:216040453 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3493del (p.Ser1164_Val1165insTer) deletion not provided [RCV001240652] Chr1:216199945 [GRCh38]
Chr1:216373287 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.449T>G (p.Leu150Ter) single nucleotide variant not provided [RCV001238263] Chr1:216421888 [GRCh38]
Chr1:216595230 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val) single nucleotide variant Inborn genetic diseases [RCV003284049]|Usher syndrome type 2A [RCV001828683]|not provided [RCV001210162] Chr1:216199638 [GRCh38]
Chr1:216372980 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1757ACA[1] (p.Asn587del) microsatellite Retinitis pigmentosa 39 [RCV003473821]|not provided [RCV001241605] Chr1:216292253..216292255 [GRCh38]
Chr1:216465595..216465597 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.15259T>A (p.Ser5087Thr) single nucleotide variant not provided [RCV001242111] Chr1:215634497 [GRCh38]
Chr1:215807839 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6485+5G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003462819]|not provided [RCV001242662] Chr1:216000398 [GRCh38]
Chr1:216173740 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12979del (p.Ser4327fs) deletion not provided [RCV001232300] Chr1:215674932 [GRCh38]
Chr1:215848274 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly) single nucleotide variant Usher syndrome type 2A [RCV001828898]|not provided [RCV001238273] Chr1:215845986 [GRCh38]
Chr1:216019328 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3737dup (p.Ser1247fs) duplication not provided [RCV001211096] Chr1:216199700..216199701 [GRCh38]
Chr1:216373042..216373043 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13592C>A (p.Ala4531Glu) single nucleotide variant not provided [RCV001246098] Chr1:215674319 [GRCh38]
Chr1:215847661 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003469432]|Usher syndrome type 2A [RCV001828874]|not provided [RCV001235584] Chr1:215640600 [GRCh38]
Chr1:215813942 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3994T>C (p.Tyr1332His) single nucleotide variant not provided [RCV001225946] Chr1:216198402 [GRCh38]
Chr1:216371744 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12497_13811+148del deletion not provided [RCV001207422] Chr1:215673952..215675414 [GRCh38]
Chr1:215847294..215848756 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001376440]|Usher syndrome type 2A [RCV003449749]|not provided [RCV001241006] Chr1:215758685 [GRCh38]
Chr1:215932027 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.221A>C (p.Glu74Ala) single nucleotide variant not provided [RCV001230511] Chr1:216422116 [GRCh38]
Chr1:216595458 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4107_4124del (p.Val1370_Ser1375del) deletion not provided [RCV001221847] Chr1:216196680..216196697 [GRCh38]
Chr1:216370022..216370039 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs) duplication Retinitis pigmentosa 39 [RCV003462781]|Usher syndrome [RCV003389489]|Usher syndrome type 2A [RCV003449720]|not provided [RCV001228843] Chr1:215970661..215970662 [GRCh38]
Chr1:216144003..216144004 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6344C>T (p.Pro2115Leu) single nucleotide variant Usher syndrome type 2A [RCV001828662]|not provided [RCV001207485] Chr1:216000544 [GRCh38]
Chr1:216173886 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg) single nucleotide variant Usher syndrome type 2A [RCV001833825]|not provided [RCV001207590] Chr1:215888473 [GRCh38]
Chr1:216061815 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala) single nucleotide variant Usher syndrome type 2A [RCV001835090]|not provided [RCV001241134] Chr1:215900132 [GRCh38]
Chr1:216073474 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8682G>T (p.Arg2894Ser) single nucleotide variant not provided [RCV001226171] Chr1:215867170 [GRCh38]
Chr1:216040512 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5751C>A (p.Tyr1917Ter) single nucleotide variant not provided [RCV001230297] Chr1:216073122 [GRCh38]
Chr1:216246464 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3251G>A (p.Trp1084Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003462783]|not provided [RCV001230360] Chr1:216207338 [GRCh38]
Chr1:216380680 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6701C>A (p.Ala2234Asp) single nucleotide variant not provided [RCV001211641] Chr1:215993124 [GRCh38]
Chr1:216166466 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4823A>G (p.His1608Arg) single nucleotide variant not provided [RCV001213066] Chr1:216089075 [GRCh38]
Chr1:216262417 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.15327T>A (p.Ser5109=) single nucleotide variant not provided [RCV001229915] Chr1:215629006 [GRCh38]
Chr1:215802348 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6536A>G (p.Tyr2179Cys) single nucleotide variant not provided [RCV001202607] Chr1:215999008 [GRCh38]
Chr1:216172350 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8783G>T (p.Gly2928Val) single nucleotide variant not provided [RCV001213266] Chr1:215867069 [GRCh38]
Chr1:216040411 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1751G>T (p.Cys584Phe) single nucleotide variant not provided [RCV001216713] Chr1:216292264 [GRCh38]
Chr1:216465606 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) single nucleotide variant Retinal dystrophy [RCV001075207]|Retinitis pigmentosa 39 [RCV003455007]|Usher syndrome [RCV003324539]|Usher syndrome type 2A [RCV000986528]|Usher syndrome type 2A [RCV002503145]|not provided [RCV001381632] Chr1:215888717 [GRCh38]
Chr1:216062059 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1829A>C (p.His610Pro) single nucleotide variant Usher syndrome type 2A [RCV000986547]|not provided [RCV001858647] Chr1:216292186 [GRCh38]
Chr1:216465528 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) duplication Usher syndrome type 2A [RCV000986550]|not provided [RCV002549669] Chr1:216325447..216325448 [GRCh38]
Chr1:216498789..216498790 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5494G>T (p.Val1832Leu) single nucleotide variant not provided [RCV003318278] Chr1:216078167 [GRCh38]
Chr1:216251509 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:216462622-216465712)x1 copy number loss not provided [RCV000994340] Chr1:216462622..216465712 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4627+48A>T single nucleotide variant Retinitis pigmentosa [RCV001100416]|Usher syndrome type 2A [RCV001100415]|not provided [RCV001550447] Chr1:216175204 [GRCh38]
Chr1:216348546 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.13465_13466insTG (p.Gly4489fs) insertion Usher syndrome type 2A [RCV001174953] Chr1:215674445..215674446 [GRCh38]
Chr1:215847787..215847788 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1802GAG[2] (p.Gly603del) microsatellite not provided [RCV001228427] Chr1:216292205..216292207 [GRCh38]
Chr1:216465547..216465549 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu) single nucleotide variant Retinitis pigmentosa [RCV001199806] Chr1:215965397 [GRCh38]
Chr1:216138739 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10060G>C (p.Val3354Leu) single nucleotide variant not provided [RCV001247558] Chr1:215790181 [GRCh38]
Chr1:215963523 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4396+2T>G single nucleotide variant Usher syndrome type 2A [RCV001199966] Chr1:216190221 [GRCh38]
Chr1:216363563 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7595-2140G>C single nucleotide variant not specified [RCV001195272] Chr1:215891194 [GRCh38]
Chr1:216064536 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7831del (p.Ser2611fs) deletion not provided [RCV001247303] Chr1:215888818 [GRCh38]
Chr1:216062160 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.-305C>G single nucleotide variant Retinitis pigmentosa [RCV001097658]|Usher syndrome type 2A [RCV001097659] Chr1:216423314 [GRCh38]
Chr1:216596656 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13599_13612del (p.Gly4534fs) deletion Usher syndrome type 2A [RCV001196251] Chr1:215674299..215674312 [GRCh38]
Chr1:215847641..215847654 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003455280]|Usher syndrome type 2A [RCV001279660]|not provided [RCV001061620] Chr1:215965410 [GRCh38]
Chr1:216138752 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) single nucleotide variant Usher syndrome type 2A [RCV001196595]|not provided [RCV001268167] Chr1:215674572 [GRCh38]
Chr1:215847914 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile) single nucleotide variant Inborn genetic diseases [RCV002561765]|Retinitis pigmentosa 39 [RCV003449667]|Usher syndrome type 2A [RCV001833857]|not provided [RCV001211833] Chr1:215779948 [GRCh38]
Chr1:215953290 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9441G>A (p.Trp3147Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003473680]|not provided [RCV001061745] Chr1:215817126 [GRCh38]
Chr1:215990468 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.295G>A (p.Ala99Thr) single nucleotide variant not provided [RCV001229536] Chr1:216422042 [GRCh38]
Chr1:216595384 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala) single nucleotide variant Usher syndrome type 2A [RCV001835302]|not provided [RCV001247719] Chr1:215878879 [GRCh38]
Chr1:216052221 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10627_10628insA (p.Arg3543fs) insertion not provided [RCV001090615] Chr1:215782154..215782155 [GRCh38]
Chr1:215955496..215955497 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser) single nucleotide variant Retinitis pigmentosa [RCV001098721]|Usher syndrome type 2A [RCV001098720] Chr1:216190234 [GRCh38]
Chr1:216363576 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003455050]|Retinitis pigmentosa [RCV001199568]|not provided [RCV001862731] Chr1:215782061 [GRCh38]
Chr1:215955403 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu) single nucleotide variant Retinitis pigmentosa [RCV001199577] Chr1:215674107 [GRCh38]
Chr1:215847449 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2046T>G (p.Asn682Lys) single nucleotide variant not provided [RCV001228330] Chr1:216251024 [GRCh38]
Chr1:216424366 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2632C>T (p.Arg878Cys) single nucleotide variant not provided [RCV003104785] Chr1:216246762 [GRCh38]
Chr1:216420104 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7609G>A (p.Val2537Ile) single nucleotide variant not provided [RCV003105230] Chr1:215889040 [GRCh38]
Chr1:216062382 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2585A>G (p.Asn862Ser) single nucleotide variant not provided [RCV003104740] Chr1:216246809 [GRCh38]
Chr1:216420151 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10219A>G (p.Met3407Val) single nucleotide variant not provided [RCV003105021] Chr1:215786838 [GRCh38]
Chr1:215960180 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6510T>C (p.Ser2170=) single nucleotide variant not provided [RCV003106398] Chr1:215999034 [GRCh38]
Chr1:216172376 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13228C>T (p.His4410Tyr) single nucleotide variant not provided [RCV003237118] Chr1:215674683 [GRCh38]
Chr1:215848025 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12679G>A (p.Asp4227Asn) single nucleotide variant not provided [RCV003106429] Chr1:215675232 [GRCh38]
Chr1:215848574 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1213A>G (p.Asn405Asp) single nucleotide variant Inborn genetic diseases [RCV003250271] Chr1:216324283 [GRCh38]
Chr1:216497625 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11733G>T (p.Glu3911Asp) single nucleotide variant not provided [RCV003235908] Chr1:215728363 [GRCh38]
Chr1:215901705 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.497A>C (p.Glu166Ala) single nucleotide variant not provided [RCV003105144] Chr1:216418668 [GRCh38]
Chr1:216592010 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.688G>T (p.Val230Leu) single nucleotide variant not provided [RCV003104356] Chr1:216365049 [GRCh38]
Chr1:216538391 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14195C>T (p.Pro4732Leu) single nucleotide variant not provided [RCV003233200] Chr1:215650740 [GRCh38]
Chr1:215824082 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7505C>T (p.Pro2502Leu) single nucleotide variant not provided [RCV003105189] Chr1:215900164 [GRCh38]
Chr1:216073506 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8681+118A>G single nucleotide variant not provided [RCV001576022] Chr1:215877640 [GRCh38]
Chr1:216050982 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6140T>A (p.Leu2047Ter) single nucleotide variant not provided [RCV001550299] Chr1:216048557 [GRCh38]
Chr1:216221899 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7120+210T>C single nucleotide variant not provided [RCV001572019] Chr1:215965107 [GRCh38]
Chr1:216138449 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6657+100_6657+101insT insertion not provided [RCV001569452] Chr1:215998786..215998787 [GRCh38]
Chr1:216172128..216172129 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6486-92C>A single nucleotide variant not provided [RCV001550882] Chr1:215999150 [GRCh38]
Chr1:216172492 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3157+214G>A single nucleotide variant not provided [RCV001550933] Chr1:216217173 [GRCh38]
Chr1:216390515 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+262G>A single nucleotide variant not provided [RCV001565879] Chr1:215877496 [GRCh38]
Chr1:216050838 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7595-1878A>G single nucleotide variant not provided [RCV001569769] Chr1:215890932 [GRCh38]
Chr1:216064274 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1551-269A>G single nucleotide variant not provided [RCV001569883] Chr1:216322245 [GRCh38]
Chr1:216495587 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7120+224T>C single nucleotide variant not provided [RCV001551579] Chr1:215965093 [GRCh38]
Chr1:216138435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-76_11390-75insATATATAT microsatellite not provided [RCV001566991] Chr1:215743410..215743411 [GRCh38]
Chr1:215916752..215916753 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8845+516A>G single nucleotide variant not provided [RCV001578004] Chr1:215866491 [GRCh38]
Chr1:216039833 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV001579270]|Usher syndrome type 2A [RCV001579269] Chr1:216246752 [GRCh38]
Chr1:216420094 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4396+274C>A single nucleotide variant not provided [RCV001570897] Chr1:216189949 [GRCh38]
Chr1:216363291 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV001579155]|Usher syndrome type 2A [RCV001579154] Chr1:215728209 [GRCh38]
Chr1:215901551 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1041T>C (p.Asp347=) single nucleotide variant Retinitis pigmentosa 39 [RCV001579272]|Usher syndrome type 2A [RCV001579271] Chr1:216325407 [GRCh38]
Chr1:216498749 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001579282]|Usher syndrome type 2A [RCV001579281] Chr1:215782797 [GRCh38]
Chr1:215956139 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6325+203T>G single nucleotide variant not provided [RCV001548241] Chr1:216046228 [GRCh38]
Chr1:216219570 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10939+44C>T single nucleotide variant not provided [RCV001553135] Chr1:215779799 [GRCh38]
Chr1:215953141 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-1104G>C single nucleotide variant not provided [RCV001553322] Chr1:216074404 [GRCh38]
Chr1:216247746 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9056-52G>T single nucleotide variant not provided [RCV001568439] Chr1:215844548 [GRCh38]
Chr1:216017890 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8083A>T (p.Lys2695Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003451808]|not provided [RCV001553487] Chr1:215888566 [GRCh38]
Chr1:216061908 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6050-213T>C single nucleotide variant not provided [RCV001560538] Chr1:216048860 [GRCh38]
Chr1:216222202 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-1050GA[11] microsatellite not provided [RCV001637635] Chr1:216074325..216074328 [GRCh38]
Chr1:216247667..216247670 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.849-247T>C single nucleotide variant not provided [RCV001713298] Chr1:216325846 [GRCh38]
Chr1:216499188 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11712-325T>C single nucleotide variant not provided [RCV001714701] Chr1:215728709 [GRCh38]
Chr1:215902051 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9959-4233A>G single nucleotide variant not provided [RCV001698910] Chr1:215794515 [GRCh38]
Chr1:215967857 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5573-1052C>T single nucleotide variant not provided [RCV001608322] Chr1:216074352 [GRCh38]
Chr1:216247694 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12074G>T (p.Ser4025Ile) single nucleotide variant not provided [RCV001596418] Chr1:215680369 [GRCh38]
Chr1:215853711 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.*243G>T single nucleotide variant not provided [RCV001725299] Chr1:215625538 [GRCh38]
Chr1:215798880 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.784+22G>T single nucleotide variant not provided [RCV001585555] Chr1:216364931 [GRCh38]
Chr1:216538273 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10183-12C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446823]|Usher syndrome type 2A [RCV003446822]|not provided [RCV001550056] Chr1:215786886 [GRCh38]
Chr1:215960228 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.9739+88C>T single nucleotide variant not provided [RCV001655518] Chr1:215813648 [GRCh38]
Chr1:215986990 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4087del (p.Val1363fs) deletion Usher syndrome type 2A [RCV001591892] Chr1:216196717 [GRCh38]
Chr1:216370059 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.651+287G>A single nucleotide variant not provided [RCV001555871] Chr1:216418227 [GRCh38]
Chr1:216591569 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003451812]|Usher syndrome type 2A [RCV001827476]|not provided [RCV001561174] Chr1:215648705 [GRCh38]
Chr1:215822047 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628-261G>A single nucleotide variant not provided [RCV001637297] Chr1:216097474 [GRCh38]
Chr1:216270816 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10586-196_10586-195dup duplication not provided [RCV001597969] Chr1:215782390..215782391 [GRCh38]
Chr1:215955732..215955733 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9740-59G>A single nucleotide variant not provided [RCV001598540] Chr1:215799184 [GRCh38]
Chr1:215972526 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14792-128dup duplication not provided [RCV001687065] Chr1:215640844..215640845 [GRCh38]
Chr1:215814186..215814187 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9259-347C>A single nucleotide variant not provided [RCV001619494] Chr1:215838450 [GRCh38]
Chr1:216011792 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+8039T>C single nucleotide variant not provided [RCV001684557] Chr1:216167213 [GRCh38]
Chr1:216340555 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-82_11390-81insATAC insertion not provided [RCV001692779] Chr1:215743416..215743417 [GRCh38]
Chr1:215916758..215916759 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3158-283del deletion not provided [RCV001576778] Chr1:216207714 [GRCh38]
Chr1:216381056 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11232-297T>C single nucleotide variant not provided [RCV001589481] Chr1:215759049 [GRCh38]
Chr1:215932391 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8223+203T>C single nucleotide variant not provided [RCV001615988] Chr1:215888223 [GRCh38]
Chr1:216061565 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His) single nucleotide variant Retinitis pigmentosa 39 [RCV003451862]|Usher syndrome type 2A [RCV002496046]|Usher syndrome type 2A [RCV003451861]|not provided [RCV001723332] Chr1:215900827 [GRCh38]
Chr1:216074169 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) microsatellite Usher syndrome type 2A [RCV001725801]|not provided [RCV002032683] Chr1:215888521..215888522 [GRCh38]
Chr1:216061863..216061864 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7594+250G>T single nucleotide variant not provided [RCV001561750] Chr1:215899825 [GRCh38]
Chr1:216073167 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12295-128A>T single nucleotide variant not provided [RCV001717701] Chr1:215675744 [GRCh38]
Chr1:215849086 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6050-24del deletion not provided [RCV001593844] Chr1:216048671 [GRCh38]
Chr1:216222013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+308del deletion not provided [RCV001669369] Chr1:215758287 [GRCh38]
Chr1:215931629 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5573-1003_5573-997del deletion not provided [RCV001657446] Chr1:216074297..216074303 [GRCh38]
Chr1:216247639..216247645 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-52AT[13] microsatellite not provided [RCV001666983] Chr1:215743371..215743372 [GRCh38]
Chr1:215916713..215916714 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5573-34del deletion Retinitis pigmentosa 39 [RCV002243353]|Usher syndrome type 2A [RCV002243352]|not provided [RCV001645967] Chr1:216073334 [GRCh38]
Chr1:216246676 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14583-335A>C single nucleotide variant not provided [RCV001550980] Chr1:215648065 [GRCh38]
Chr1:215821407 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12294+184T>A single nucleotide variant not provided [RCV001556856] Chr1:215679965 [GRCh38]
Chr1:215853307 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1971+274G>A single nucleotide variant not provided [RCV001586749] Chr1:216289006 [GRCh38]
Chr1:216462348 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13609C>T (p.Pro4537Ser) single nucleotide variant not provided [RCV001699627] Chr1:215674302 [GRCh38]
Chr1:215847644 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV001591877]|Usher syndrome type 2A [RCV001832807]|not provided [RCV001658305] Chr1:215888932 [GRCh38]
Chr1:216062274 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4759-134T>C single nucleotide variant not provided [RCV001569861] Chr1:216089273 [GRCh38]
Chr1:216262615 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-89dup duplication not provided [RCV001556935] Chr1:215671372..215671373 [GRCh38]
Chr1:215844714..215844715 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-79C>T single nucleotide variant not provided [RCV001717691] Chr1:215743414 [GRCh38]
Chr1:215916756 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003451828]|Usher syndrome type 2A [RCV001827537]|not provided [RCV001592233]|not specified [RCV002300559] Chr1:215779851 [GRCh38]
Chr1:215953193 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6805+313T>C single nucleotide variant not provided [RCV001594078] Chr1:215992707 [GRCh38]
Chr1:216166049 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11711+245G>T single nucleotide variant not provided [RCV001639689] Chr1:215741130 [GRCh38]
Chr1:215914472 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.2993+146A>G single nucleotide variant not provided [RCV001613527] Chr1:216231807 [GRCh38]
Chr1:216405149 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7121-23T>G single nucleotide variant not provided [RCV001587480] Chr1:215934818 [GRCh38]
Chr1:216108160 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1971+198A>G single nucleotide variant not provided [RCV001616546] Chr1:216289082 [GRCh38]
Chr1:216462424 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1551-264del deletion not provided [RCV001589495] Chr1:216322240 [GRCh38]
Chr1:216495582 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14289del (p.Ile4764fs) deletion not provided [RCV001700834] Chr1:215650646 [GRCh38]
Chr1:215823988 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11875C>T (p.Gln3959Ter) single nucleotide variant not provided [RCV001700599] Chr1:215728221 [GRCh38]
Chr1:215901563 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9958+4175G>A single nucleotide variant not provided [RCV001710150] Chr1:215794732 [GRCh38]
Chr1:215968074 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9959-4301T>C single nucleotide variant not provided [RCV001714006] Chr1:215794583 [GRCh38]
Chr1:215967925 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-112_11390-111insACACACACA insertion not provided [RCV001545172] Chr1:215743446..215743447 [GRCh38]
Chr1:215916788..215916789 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11048-262A>C single nucleotide variant not provided [RCV001544946] Chr1:215760105 [GRCh38]
Chr1:215933447 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4886-95G>A single nucleotide variant not provided [RCV001558042] Chr1:216086915 [GRCh38]
Chr1:216260257 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6325+114G>C single nucleotide variant not provided [RCV001652890] Chr1:216046317 [GRCh38]
Chr1:216219659 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5573-578C>A single nucleotide variant not provided [RCV001676771] Chr1:216073878 [GRCh38]
Chr1:216247220 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8705T>C (p.Leu2902Pro) single nucleotide variant not provided [RCV001889067] Chr1:215867147 [GRCh38]
Chr1:216040489 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2167+115dup duplication not provided [RCV001545219] Chr1:216250779..216250780 [GRCh38]
Chr1:216424121..216424122 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-578C>T single nucleotide variant not provided [RCV001577961] Chr1:216073878 [GRCh38]
Chr1:216247220 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7121-223G>A single nucleotide variant not provided [RCV001570472] Chr1:215935018 [GRCh38]
Chr1:216108360 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15298-236A>G single nucleotide variant not provided [RCV001552002] Chr1:215629271 [GRCh38]
Chr1:215802613 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6486-185C>T single nucleotide variant not provided [RCV001676585] Chr1:215999243 [GRCh38]
Chr1:216172585 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11549-261C>T single nucleotide variant not provided [RCV001570834] Chr1:215741798 [GRCh38]
Chr1:215915140 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+5605A>C single nucleotide variant not provided [RCV001715330] Chr1:216169647 [GRCh38]
Chr1:216342989 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4397-92A>G single nucleotide variant not provided [RCV001715331] Chr1:216175574 [GRCh38]
Chr1:216348916 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+7319A>G single nucleotide variant not provided [RCV001715332] Chr1:216167933 [GRCh38]
Chr1:216341275 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+9599A>G single nucleotide variant not provided [RCV001715334] Chr1:216165653 [GRCh38]
Chr1:216338995 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+7985C>T single nucleotide variant not provided [RCV001715335] Chr1:216167267 [GRCh38]
Chr1:216340609 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10182+27C>T single nucleotide variant not provided [RCV001715337] Chr1:215790032 [GRCh38]
Chr1:215963374 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14582+196C>T single nucleotide variant not provided [RCV001677291] Chr1:215648332 [GRCh38]
Chr1:215821674 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7594+143G>A single nucleotide variant not provided [RCV001650361] Chr1:215899932 [GRCh38]
Chr1:216073274 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser) single nucleotide variant Retinitis pigmentosa [RCV001724840]|not provided [RCV002543875] Chr1:216321921 [GRCh38]
Chr1:216495263 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003451860]|Retinitis pigmentosa [RCV001724846]|not provided [RCV001882786] Chr1:215782146 [GRCh38]
Chr1:215955488 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3158-300dup duplication not provided [RCV001574245] Chr1:216207713..216207714 [GRCh38]
Chr1:216381055..216381056 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-69C>T single nucleotide variant not provided [RCV001654977] Chr1:215743404 [GRCh38]
Chr1:215916746 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3317-12dup duplication not provided [RCV001621273] Chr1:216200129..216200130 [GRCh38]
Chr1:216373471..216373472 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6658-273C>T single nucleotide variant not provided [RCV001595264] Chr1:215993440 [GRCh38]
Chr1:216166782 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.13767T>A (p.Phe4589Leu) single nucleotide variant Usher syndrome type 2A [RCV001532779] Chr1:215674144 [GRCh38]
Chr1:215847486 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-127C>T single nucleotide variant not provided [RCV001567042] Chr1:216073427 [GRCh38]
Chr1:216246769 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.651+31G>A single nucleotide variant not provided [RCV001567139] Chr1:216418483 [GRCh38]
Chr1:216591825 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=) single nucleotide variant Usher syndrome type 2A [RCV001275017]|not provided [RCV000929572] Chr1:216199760 [GRCh38]
Chr1:216373102 [GRCh37]
Chr1:1q41
benign|uncertain significance
NM_206933.4(USH2A):c.6958-8A>T single nucleotide variant Retinitis pigmentosa 39 [RCV001376386]|not provided [RCV000930222] Chr1:215965487 [GRCh38]
Chr1:216138829 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.5907C>T (p.Tyr1969=) single nucleotide variant not provided [RCV000931575] Chr1:216070243 [GRCh38]
Chr1:216243585 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7284T>C (p.Ile2428=) single nucleotide variant not provided [RCV000931583] Chr1:215934632 [GRCh38]
Chr1:216107974 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10281G>A (p.Val3427=) single nucleotide variant not provided [RCV000944464] Chr1:215786776 [GRCh38]
Chr1:215960118 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5175G>A (p.Leu1725=) single nucleotide variant not provided [RCV000983582] Chr1:216083579 [GRCh38]
Chr1:216256921 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=) single nucleotide variant Usher syndrome type 2A [RCV001832176]|not provided [RCV000944563] Chr1:215813761 [GRCh38]
Chr1:215987103 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10800C>G (p.Ala3600=) single nucleotide variant not provided [RCV000940954] Chr1:215779982 [GRCh38]
Chr1:215953324 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8064T>C (p.Ser2688=) single nucleotide variant Usher syndrome type 2A [RCV001271974]|not provided [RCV000931622] Chr1:215888585 [GRCh38]
Chr1:216061927 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1761C>T (p.Asn587=) single nucleotide variant Usher syndrome type 2A [RCV001275024]|not provided [RCV000979370] Chr1:216292254 [GRCh38]
Chr1:216465596 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13833G>A (p.Ala4611=) single nucleotide variant not provided [RCV000944667] Chr1:215671272 [GRCh38]
Chr1:215844614 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4396+9G>T single nucleotide variant not provided [RCV000979975] Chr1:216190214 [GRCh38]
Chr1:216363556 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.723T>C (p.Thr241=) single nucleotide variant Usher syndrome type 2A [RCV001277089]|not provided [RCV000909799] Chr1:216365014 [GRCh38]
Chr1:216538356 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8964G>A (p.Lys2988=) single nucleotide variant not provided [RCV000932497] Chr1:215845915 [GRCh38]
Chr1:216019257 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7395C>G (p.Gly2465=) single nucleotide variant not provided [RCV000979521] Chr1:215900811 [GRCh38]
Chr1:216074153 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11499T>C (p.Asn3833=) single nucleotide variant not provided [RCV000979572] Chr1:215743226 [GRCh38]
Chr1:215916568 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13563T>C (p.Pro4521=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454952]|Usher syndrome type 2A [RCV003454951]|not provided [RCV000918643] Chr1:215674348 [GRCh38]
Chr1:215847690 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9366T>C (p.Thr3122=) single nucleotide variant not provided [RCV000941541] Chr1:215837996 [GRCh38]
Chr1:216011338 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8598A>G (p.Ala2866=) single nucleotide variant not provided [RCV000931829] Chr1:215877841 [GRCh38]
Chr1:216051183 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12369T>C (p.Asp4123=) single nucleotide variant Usher syndrome type 2A [RCV001271124]|not provided [RCV000930073] Chr1:215675542 [GRCh38]
Chr1:215848884 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15355C>A (p.Arg5119=) single nucleotide variant not provided [RCV000980111] Chr1:215628978 [GRCh38]
Chr1:215802320 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-24CT[10] microsatellite not provided [RCV000897388] Chr1:215743341..215743342 [GRCh38]
Chr1:215916683..215916684 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1470T>C (p.His490=) single nucleotide variant not provided [RCV000975596] Chr1:216323554 [GRCh38]
Chr1:216496896 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3063T>C (p.Cys1021=) single nucleotide variant not provided [RCV000978590] Chr1:216217481 [GRCh38]
Chr1:216390823 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4081+7A>T single nucleotide variant not provided [RCV000929855] Chr1:216198308 [GRCh38]
Chr1:216371650 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11193G>A (p.Glu3731=) single nucleotide variant not provided [RCV000908640] Chr1:215759698 [GRCh38]
Chr1:215933040 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3561C>T (p.Ala1187=) single nucleotide variant not provided [RCV000931189] Chr1:216199877 [GRCh38]
Chr1:216373219 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2415G>C (p.Gly805=) single nucleotide variant not provided [RCV000931190] Chr1:216246979 [GRCh38]
Chr1:216420321 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9552C>T (p.Cys3184=) single nucleotide variant not provided [RCV000932731] Chr1:215817015 [GRCh38]
Chr1:215990357 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=) single nucleotide variant Usher syndrome type 2A [RCV001275018]|not provided [RCV000932732] Chr1:216199772 [GRCh38]
Chr1:216373114 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.3672T>C (p.Thr1224=) single nucleotide variant not provided [RCV000932763] Chr1:216199766 [GRCh38]
Chr1:216373108 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2409C>G (p.Leu803=) single nucleotide variant not provided [RCV000976135] Chr1:216246985 [GRCh38]
Chr1:216420327 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+120G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446549]|Usher syndrome type 2A [RCV003446548]|not provided [RCV000939776] Chr1:215877638 [GRCh38]
Chr1:216050980 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7698T>C (p.Tyr2566=) single nucleotide variant Usher syndrome type 2A [RCV001826996]|not provided [RCV000942085] Chr1:215888951 [GRCh38]
Chr1:216062293 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-7T>C single nucleotide variant not provided [RCV000981124] Chr1:215743342 [GRCh38]
Chr1:215916684 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14643C>T (p.Ser4881=) single nucleotide variant not provided [RCV000975881] Chr1:215647670 [GRCh38]
Chr1:215821012 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454957]|Usher syndrome type 2A [RCV001826944]|not provided [RCV000929958] Chr1:215675482 [GRCh38]
Chr1:215848824 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454946]|Usher syndrome type 2A [RCV001276951]|not provided [RCV000909426] Chr1:215790182 [GRCh38]
Chr1:215963524 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3317-8C>T single nucleotide variant not provided [RCV000959528] Chr1:216200129 [GRCh38]
Chr1:216373471 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.348G>A (p.Leu116=) single nucleotide variant not provided [RCV000928843] Chr1:216421989 [GRCh38]
Chr1:216595331 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6480C>T (p.His2160=) single nucleotide variant not provided [RCV000931332] Chr1:216000408 [GRCh38]
Chr1:216173750 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14415A>G (p.Val4805=) single nucleotide variant not provided [RCV000982867] Chr1:215648695 [GRCh38]
Chr1:215822037 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4650A>G (p.Thr1550=) single nucleotide variant not provided [RCV000982885] Chr1:216097191 [GRCh38]
Chr1:216270533 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10317A>T (p.Ser3439=) single nucleotide variant not provided [RCV000930732] Chr1:215786740 [GRCh38]
Chr1:215960082 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.784+10T>A single nucleotide variant not provided [RCV000908818] Chr1:216364943 [GRCh38]
Chr1:216538285 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14961G>A (p.Ala4987=) single nucleotide variant Usher syndrome type 2A [RCV001826957]|not provided [RCV000932120] Chr1:215640565 [GRCh38]
Chr1:215813907 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=) single nucleotide variant Usher syndrome type 2A [RCV001279666]|not provided [RCV000932133] Chr1:216198463 [GRCh38]
Chr1:216371805 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7301-5G>A single nucleotide variant not provided [RCV000982281] Chr1:215900910 [GRCh38]
Chr1:216074252 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8910C>T (p.Asn2970=) single nucleotide variant not provided [RCV000932943] Chr1:215845969 [GRCh38]
Chr1:216019311 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1194G>A (p.Arg398=) single nucleotide variant not provided [RCV000932947] Chr1:216324302 [GRCh38]
Chr1:216497644 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10674A>G (p.Gln3558=) single nucleotide variant not provided [RCV000889009] Chr1:215782108 [GRCh38]
Chr1:215955450 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg) single nucleotide variant Usher syndrome type 2A [RCV001277529]|not provided [RCV000930120] Chr1:215648598 [GRCh38]
Chr1:215821940 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9867C>T (p.Gly3289=) single nucleotide variant not provided [RCV000908913] Chr1:215798998 [GRCh38]
Chr1:215972340 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12144T>C (p.His4048=) single nucleotide variant not provided [RCV000918018] Chr1:215680299 [GRCh38]
Chr1:215853641 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9201T>C (p.Asn3067=) single nucleotide variant Usher syndrome type 2A [RCV001276960]|not provided [RCV000944226] Chr1:215844351 [GRCh38]
Chr1:216017693 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.15297+8T>G single nucleotide variant not provided [RCV000979525] Chr1:215634451 [GRCh38]
Chr1:215807793 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile) single nucleotide variant Usher syndrome type 2A [RCV001272945]|not provided [RCV000953433] Chr1:215674812 [GRCh38]
Chr1:215848154 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3220T>C (p.Trp1074Arg) single nucleotide variant not provided [RCV001038387] Chr1:216207369 [GRCh38]
Chr1:216380711 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.5953G>C (p.Glu1985Gln) single nucleotide variant not provided [RCV001238595] Chr1:216070197 [GRCh38]
Chr1:216243539 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6989A>G (p.Glu2330Gly) single nucleotide variant not provided [RCV001242002] Chr1:215965448 [GRCh38]
Chr1:216138790 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1687C>T (p.Gln563Ter) single nucleotide variant not provided [RCV001225826] Chr1:216292328 [GRCh38]
Chr1:216465670 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.612dup (p.Arg205fs) duplication Usher syndrome type 2A [RCV003455275]|not provided [RCV001060832] Chr1:216418552..216418553 [GRCh38]
Chr1:216591894..216591895 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) single nucleotide variant Retinitis pigmentosa 39 [RCV001578843]|Retinitis pigmentosa [RCV001101106]|Usher syndrome type 2A [RCV001101107]|not provided [RCV002069695] Chr1:216292311 [GRCh38]
Chr1:216465653 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003449634]|Usher syndrome type 2A [RCV001197677]|not provided [RCV001240906] Chr1:215993157 [GRCh38]
Chr1:216166499 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3212A>G (p.Asn1071Ser) single nucleotide variant Usher syndrome type 2A [RCV001834048]|not provided [RCV001235728] Chr1:216207377 [GRCh38]
Chr1:216380719 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5038A>T (p.Lys1680Ter) single nucleotide variant not provided [RCV001242167] Chr1:216084827 [GRCh38]
Chr1:216258169 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6366A>T (p.Ala2122=) single nucleotide variant Retinitis pigmentosa 39 [RCV003449566]|Usher syndrome type 2A [RCV003449565]|not provided [RCV001172229] Chr1:216000522 [GRCh38]
Chr1:216173864 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly) single nucleotide variant Retinitis pigmentosa [RCV001199574] Chr1:215675493 [GRCh38]
Chr1:215848835 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12392C>T (p.Thr4131Ile) single nucleotide variant Usher syndrome type 2A [RCV001833769]|not provided [RCV001201626] Chr1:215675519 [GRCh38]
Chr1:215848861 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp) single nucleotide variant Usher syndrome type 2A [RCV001827444]|not provided [RCV001068089] Chr1:215640650 [GRCh38]
Chr1:215813992 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5781C>A (p.Tyr1927Ter) single nucleotide variant not provided [RCV001207630] Chr1:216072965 [GRCh38]
Chr1:216246307 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys) single nucleotide variant Inborn genetic diseases [RCV002563842]|Retinitis pigmentosa 39 [RCV003449735]|Usher syndrome type 2A [RCV001834050]|not provided [RCV001235925] Chr1:216070158 [GRCh38]
Chr1:216243500 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr) single nucleotide variant Usher syndrome type 2A [RCV001833928]|not provided [RCV001222495] Chr1:215647633 [GRCh38]
Chr1:215820975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7301-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003462775]|Usher syndrome type 2A [RCV001833957]|not provided [RCV001226427] Chr1:215900906 [GRCh38]
Chr1:216074248 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp) single nucleotide variant Inborn genetic diseases [RCV002564039]|Retinitis pigmentosa 39 [RCV003449760]|Usher syndrome type 2A [RCV003449759]|not provided [RCV001242704] Chr1:215844396 [GRCh38]
Chr1:216017738 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14053A>G (p.Asn4685Asp) single nucleotide variant not provided [RCV001244596] Chr1:215671052 [GRCh38]
Chr1:215844394 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2514A>G (p.Gln838=) single nucleotide variant Usher syndrome type 2A [RCV001835209]|not provided [RCV001244554] Chr1:216246880 [GRCh38]
Chr1:216420222 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser) single nucleotide variant Retinitis pigmentosa [RCV001199790] Chr1:216250990 [GRCh38]
Chr1:216424332 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) single nucleotide variant Retinal dystrophy [RCV001073676]|Retinitis pigmentosa 39 [RCV003455174]|Usher syndrome type 2A [RCV001271231]|not provided [RCV001042728] Chr1:216200063 [GRCh38]
Chr1:216373405 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala) single nucleotide variant Usher syndrome type 2A [RCV001828744]|not provided [RCV001219023] Chr1:215877794 [GRCh38]
Chr1:216051136 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9912dup (p.Glu3305fs) duplication not provided [RCV001242876] Chr1:215798952..215798953 [GRCh38]
Chr1:215972294..215972295 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2561C>A (p.Thr854Lys) single nucleotide variant not provided [RCV001239486] Chr1:216246833 [GRCh38]
Chr1:216420175 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.800T>C (p.Val267Ala) single nucleotide variant Usher syndrome type 2A [RCV001835150]|not provided [RCV001242990] Chr1:216327639 [GRCh38]
Chr1:216500981 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser) single nucleotide variant Usher syndrome type 2A [RCV001828813]|not provided [RCV001226886] Chr1:216250921 [GRCh38]
Chr1:216424263 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg) single nucleotide variant Inborn genetic diseases [RCV003353257]|Retinitis pigmentosa 39 [RCV003449761]|Usher syndrome type 2A [RCV001836217]|not provided [RCV001243040] Chr1:215813892 [GRCh38]
Chr1:215987234 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003449770]|Usher syndrome type 2A [RCV001835215]|not provided [RCV001244828] Chr1:215838087 [GRCh38]
Chr1:216011429 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2320G>A (p.Gly774Arg) single nucleotide variant not provided [RCV001231985] Chr1:216247074 [GRCh38]
Chr1:216420416 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11867C>G (p.Ser3956Ter) single nucleotide variant not provided [RCV001203622] Chr1:215728229 [GRCh38]
Chr1:215901571 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8332C>T (p.Gln2778Ter) single nucleotide variant not provided [RCV001227118] Chr1:215878990 [GRCh38]
Chr1:216052332 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13040_13062delinsTCAGAAGTCA (p.Thr4347fs) indel Retinitis pigmentosa 39 [RCV003449771]|not provided [RCV001245029] Chr1:215674849..215674871 [GRCh38]
Chr1:215848191..215848213 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe) single nucleotide variant Inborn genetic diseases [RCV002564062]|Retinitis pigmentosa 39 [RCV003449762]|Usher syndrome type 2A [RCV001829023]|not provided [RCV001243377] Chr1:215900809 [GRCh38]
Chr1:216074151 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser) single nucleotide variant Usher syndrome type 2A [RCV001829025]|not provided [RCV001243381] Chr1:215759829 [GRCh38]
Chr1:215933171 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys) single nucleotide variant Usher syndrome type 2A [RCV001828816]|not provided [RCV001227461] Chr1:216324260 [GRCh38]
Chr1:216497602 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003449772]|Usher syndrome type 2A [RCV001829950]|Usher syndrome type 2A [RCV002480833]|not provided [RCV001245182] Chr1:215625843 [GRCh38]
Chr1:215799185 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1504C>G (p.Leu502Val) single nucleotide variant not provided [RCV001245213] Chr1:216323520 [GRCh38]
Chr1:216496862 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003449800]|Usher syndrome type 2A [RCV001835335]|Usher syndrome type 2A [RCV002484397]|not provided [RCV001248421] Chr1:216198459 [GRCh38]
Chr1:216371801 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2825C>T (p.Pro942Leu) single nucleotide variant not provided [RCV001230999] Chr1:216232121 [GRCh38]
Chr1:216405463 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) single nucleotide variant Retinal dystrophy [RCV001074357]|Retinitis pigmentosa 39 [RCV003455251]|Usher syndrome type 2A [RCV001272949]|Usher syndrome type 2A [RCV002481997]|not provided [RCV001055174] Chr1:215675210 [GRCh38]
Chr1:215848552 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr) single nucleotide variant Usher syndrome type 2A [RCV001276950]|not provided [RCV001071364] Chr1:215790129 [GRCh38]
Chr1:215963471 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9593A>C (p.Tyr3198Ser) single nucleotide variant not provided [RCV001243615] Chr1:215813882 [GRCh38]
Chr1:215987224 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg) single nucleotide variant Usher syndrome type 2A [RCV001835234]|not provided [RCV001245314] Chr1:215888968 [GRCh38]
Chr1:216062310 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003449773]|Usher syndrome type 2A [RCV001835237]|Usher syndrome type 2A [RCV002484365]|not provided [RCV001245380] Chr1:215674434 [GRCh38]
Chr1:215847776 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003449654]|Retinitis pigmentosa [RCV001724266]|Usher syndrome type 2A [RCV001828672]|not provided [RCV001208722] Chr1:216048534 [GRCh38]
Chr1:216221876 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10962C>A (p.Tyr3654Ter) single nucleotide variant not provided [RCV001208723] Chr1:215766766 [GRCh38]
Chr1:215940108 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5480G>C (p.Gly1827Ala) single nucleotide variant not provided [RCV001227690] Chr1:216078181 [GRCh38]
Chr1:216251523 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10189A>G (p.Lys3397Glu) single nucleotide variant Usher syndrome type 2A [RCV001827339]|not provided [RCV001053958] Chr1:215786868 [GRCh38]
Chr1:215960210 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2853C>A (p.Cys951Ter) single nucleotide variant not provided [RCV001231136] Chr1:216232093 [GRCh38]
Chr1:216405435 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8188C>A (p.Pro2730Thr) single nucleotide variant Usher syndrome type 2A [RCV001834123]|not provided [RCV001240510] Chr1:215888461 [GRCh38]
Chr1:216061803 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly) single nucleotide variant not provided [RCV001245559] Chr1:216200032 [GRCh38]
Chr1:216373374 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10478G>T (p.Arg3493Ile) single nucleotide variant not provided [RCV001055819] Chr1:215782845 [GRCh38]
Chr1:215956187 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8868A>G (p.Glu2956=) single nucleotide variant not provided [RCV001053284] Chr1:215846011 [GRCh38]
Chr1:216019353 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1025T>C (p.Leu342Pro) single nucleotide variant not provided [RCV001231294] Chr1:216325423 [GRCh38]
Chr1:216498765 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216070101)_(216097213_?)del deletion not provided [RCV001031204] Chr1:216243443..216270555 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8923A>G (p.Ile2975Val) single nucleotide variant not provided [RCV001237364] Chr1:215845956 [GRCh38]
Chr1:216019298 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2002G>A (p.Val668Met) single nucleotide variant Usher syndrome type 2A [RCV001835189]|not provided [RCV001243916] Chr1:216251068 [GRCh38]
Chr1:216424410 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) duplication Usher syndrome type 2A [RCV002290591]|not provided [RCV001090613] Chr1:215650702..215650703 [GRCh38]
Chr1:215824044..215824045 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6639A>G (p.Lys2213=) single nucleotide variant Retinitis pigmentosa 39 [RCV003449564]|Usher syndrome type 2A [RCV003449563]|not provided [RCV001172228] Chr1:215998905 [GRCh38]
Chr1:216172247 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu) single nucleotide variant Usher syndrome type 2A [RCV001827407]|not provided [RCV001063535] Chr1:216246773 [GRCh38]
Chr1:216420115 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_215837991)_(215844496_?)dup duplication not provided [RCV001031561] Chr1:216011333..216017838 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14529del (p.Thr4844fs) deletion not provided [RCV001240820] Chr1:215648581 [GRCh38]
Chr1:215821923 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV001579143]|Usher syndrome type 2A [RCV001579283]|not provided [RCV001240995] Chr1:215998981 [GRCh38]
Chr1:216172323 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003455257]|Usher syndrome type 2A [RCV001271139]|Usher syndrome type 2A [RCV002482019]|not provided [RCV001057430] Chr1:215759757 [GRCh38]
Chr1:215933099 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) duplication Retinitis pigmentosa 39 [RCV003455051]|Usher syndrome type 2 [RCV001199573]|Usher syndrome type 2A [RCV001827167]|not provided [RCV001064224] Chr1:215675577..215675578 [GRCh38]
Chr1:215848919..215848920 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2548G>C (p.Asp850His) single nucleotide variant not provided [RCV001241356] Chr1:216246846 [GRCh38]
Chr1:216420188 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11824dup (p.Val3942fs) duplication not provided [RCV001058993] Chr1:215728271..215728272 [GRCh38]
Chr1:215901613..215901614 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003449792]|Usher syndrome type 2A [RCV001835284]|Usher syndrome type 2A [RCV002480845]|not provided [RCV001246868] Chr1:215640569 [GRCh38]
Chr1:215813911 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter) single nucleotide variant Usher syndrome [RCV003117733]|Usher syndrome type 2A [RCV003455289]|not provided [RCV001066221] Chr1:215790167 [GRCh38]
Chr1:215963509 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7019A>T (p.Gln2340Leu) single nucleotide variant Usher syndrome type 2A [RCV001834039]|not provided [RCV001235122] Chr1:215965418 [GRCh38]
Chr1:216138760 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro) single nucleotide variant Usher syndrome type 2A [RCV001833920]|not provided [RCV001221588] Chr1:215671019 [GRCh38]
Chr1:215844361 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5945G>A (p.Gly1982Asp) single nucleotide variant Usher syndrome type 2A [RCV001835193]|not provided [RCV001244026] Chr1:216070205 [GRCh38]
Chr1:216243547 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9235C>G (p.Pro3079Ala) single nucleotide variant not provided [RCV001227863] Chr1:215844317 [GRCh38]
Chr1:216017659 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11361T>A (p.Tyr3787Ter) single nucleotide variant not provided [RCV001244078] Chr1:215758623 [GRCh38]
Chr1:215931965 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4627+36C>T single nucleotide variant Retinitis pigmentosa [RCV001100417]|Usher syndrome type 2A [RCV001100418] Chr1:216175216 [GRCh38]
Chr1:216348558 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003449633]|Usher syndrome type 2A [RCV001197526]|not provided [RCV002560235] Chr1:216246644 [GRCh38]
Chr1:216419986 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5891G>A (p.Arg1964His) single nucleotide variant Inborn genetic diseases [RCV002554494]|not provided [RCV001066623] Chr1:216070259 [GRCh38]
Chr1:216243601 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) duplication Retinitis pigmentosa 39 [RCV003449740]|Usher syndrome type 2A [RCV002504336]|Usher syndrome type 2A [RCV003449739]|not provided [RCV001238478] Chr1:216292190..216292191 [GRCh38]
Chr1:216465532..216465533 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys) single nucleotide variant Usher syndrome type 2A [RCV001828795]|not provided [RCV001225577] Chr1:215671285 [GRCh38]
Chr1:215844627 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly) single nucleotide variant Usher syndrome type 2A [RCV001836213]|not provided [RCV001241874] Chr1:215782935 [GRCh38]
Chr1:215956277 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs) deletion not provided [RCV001228083] Chr1:216097169..216097172 [GRCh38]
Chr1:216270511..216270514 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=) single nucleotide variant Usher syndrome type 2A [RCV001274945]|not provided [RCV000890025] Chr1:215766778 [GRCh38]
Chr1:215940120 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1230G>A (p.Glu410=) single nucleotide variant not provided [RCV000911993] Chr1:216324266 [GRCh38]
Chr1:216497608 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13716A>G (p.Leu4572=) single nucleotide variant not provided [RCV000933624] Chr1:215674195 [GRCh38]
Chr1:215847537 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9756A>G (p.Pro3252=) single nucleotide variant not provided [RCV000933813] Chr1:215799109 [GRCh38]
Chr1:215972451 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003455014]|Usher syndrome type 2A [RCV003455013]|not provided [RCV000993541] Chr1:216246633 [GRCh38]
Chr1:216419975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14667G>C (p.Gly4889=) single nucleotide variant not provided [RCV000933914] Chr1:215647646 [GRCh38]
Chr1:215820988 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1158C>A (p.Ile386=) single nucleotide variant Usher syndrome type 2A [RCV001277085]|not provided [RCV000912537] Chr1:216324338 [GRCh38]
Chr1:216497680 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2121C>T (p.Thr707=) single nucleotide variant not provided [RCV000935849] Chr1:216250949 [GRCh38]
Chr1:216424291 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-5T>C single nucleotide variant Usher syndrome type 2A [RCV001272940]|not provided [RCV000911376] Chr1:215671298 [GRCh38]
Chr1:215844640 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2534del (p.Leu845fs) deletion Usher syndrome type 2A [RCV000986545] Chr1:216246860 [GRCh38]
Chr1:216420202 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) duplication Usher syndrome type 2A [RCV000986549]|not provided [RCV001858648] Chr1:216324168..216324169 [GRCh38]
Chr1:216497510..216497511 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.402del (p.Cys135fs) deletion not provided [RCV001858649] Chr1:216421935 [GRCh38]
Chr1:216595277 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.848+274G>T single nucleotide variant not provided [RCV001561705] Chr1:216327317 [GRCh38]
Chr1:216500659 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4081+257A>T single nucleotide variant not provided [RCV001561853] Chr1:216198058 [GRCh38]
Chr1:216371400 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5447T>A (p.Val1816Glu) single nucleotide variant not provided [RCV001531658] Chr1:216078214 [GRCh38]
Chr1:216251556 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1143+284G>A single nucleotide variant not provided [RCV001540960] Chr1:216325021 [GRCh38]
Chr1:216498363 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6049+76A>T single nucleotide variant not provided [RCV001556524] Chr1:216070025 [GRCh38]
Chr1:216243367 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+313C>T single nucleotide variant not provided [RCV001556619] Chr1:215758282 [GRCh38]
Chr1:215931624 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11549-44C>T single nucleotide variant not provided [RCV001562176] Chr1:215741581 [GRCh38]
Chr1:215914923 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13381G>T (p.Glu4461Ter) single nucleotide variant not provided [RCV001567098] Chr1:215674530 [GRCh38]
Chr1:215847872 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9372-105AT[7] microsatellite not provided [RCV001656807] Chr1:215817288..215817289 [GRCh38]
Chr1:215990630..215990631 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14133+131T>C single nucleotide variant not provided [RCV001572203] Chr1:215670841 [GRCh38]
Chr1:215844183 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-187T>A single nucleotide variant not provided [RCV001562412] Chr1:216247413 [GRCh38]
Chr1:216420755 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val) single nucleotide variant Retinitis pigmentosa 39 [RCV001578836]|Usher syndrome type 2A [RCV001578835]|not provided [RCV001882693] Chr1:216072933 [GRCh38]
Chr1:216246275 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4885+267G>A single nucleotide variant not provided [RCV001677061] Chr1:216088746 [GRCh38]
Chr1:216262088 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14792-69_14792-67del deletion not provided [RCV001551512] Chr1:215640801..215640803 [GRCh38]
Chr1:215814143..215814145 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6805+213T>G single nucleotide variant not provided [RCV001570149] Chr1:215992807 [GRCh38]
Chr1:216166149 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-116T>A single nucleotide variant not provided [RCV001562850] Chr1:215743451 [GRCh38]
Chr1:215916793 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1328+52T>C single nucleotide variant not provided [RCV001547933] Chr1:216324116 [GRCh38]
Chr1:216497458 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV001579146]|Usher syndrome type 2A [RCV001579145] Chr1:216084818 [GRCh38]
Chr1:216258160 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV001579274]|Usher syndrome type 2A [RCV001579273] Chr1:215790279 [GRCh38]
Chr1:215963621 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.-204-222T>G single nucleotide variant not provided [RCV001575578] Chr1:216422762 [GRCh38]
Chr1:216596104 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2062C>T (p.Pro688Ser) single nucleotide variant not provided [RCV000994251] Chr1:216251008 [GRCh38]
Chr1:216424350 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003455530]|Usher syndrome type 2A [RCV003455529]|not provided [RCV002569375]|not specified [RCV002470163] Chr1:216325541 [GRCh38]
Chr1:216498883 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14134-53T>C single nucleotide variant not provided [RCV001578202] Chr1:215650854 [GRCh38]
Chr1:215824196 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12294+134C>T single nucleotide variant not provided [RCV001619723] Chr1:215680015 [GRCh38]
Chr1:215853357 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs) indel Usher syndrome [RCV003230863] Chr1:216199896..216199897 [GRCh38]
Chr1:216373238..216373239 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11390-77C>G single nucleotide variant not provided [RCV001717697] Chr1:215743412 [GRCh38]
Chr1:215916754 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1550+172TA[10] microsatellite not provided [RCV001717705] Chr1:216323277..216323282 [GRCh38]
Chr1:216496619..216496624 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1645-143C>T single nucleotide variant not provided [RCV001552571] Chr1:216292513 [GRCh38]
Chr1:216465855 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7595-296del deletion not provided [RCV001553044] Chr1:215889350 [GRCh38]
Chr1:216062692 [GRCh37]
Chr1:1q41
likely benign
NM_206933.2(USH2A):c.850_853delGAGA microsatellite Usher syndrome type 2A [RCV002471309] Chr1:216325595..216325598 [GRCh38]
Chr1:216498937..216498940 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4988-267G>A single nucleotide variant not provided [RCV001559647] Chr1:216085144 [GRCh38]
Chr1:216258486 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9371+205C>T single nucleotide variant not provided [RCV001553129] Chr1:215837786 [GRCh38]
Chr1:216011128 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14134-68_14134-67dup duplication not provided [RCV001586801] Chr1:215650853..215650854 [GRCh38]
Chr1:215824195..215824196 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-74_11390-73insATATATAT microsatellite not provided [RCV001596006] Chr1:215743408..215743409 [GRCh38]
Chr1:215916750..215916751 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7594+56_7594+64del deletion not provided [RCV001575868] Chr1:215900011..215900019 [GRCh38]
Chr1:216073353..216073361 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14134-41G>C single nucleotide variant not provided [RCV001575990] Chr1:215650842 [GRCh38]
Chr1:215824184 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4988-243C>G single nucleotide variant not provided [RCV001546016] Chr1:216085120 [GRCh38]
Chr1:216258462 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6657+102T>C single nucleotide variant not provided [RCV001565547] Chr1:215998785 [GRCh38]
Chr1:216172127 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4082-214C>G single nucleotide variant not provided [RCV001576198] Chr1:216196936 [GRCh38]
Chr1:216370278 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-57C>T single nucleotide variant not provided [RCV001560583] Chr1:215743392 [GRCh38]
Chr1:215916734 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:216138660-216270555) copy number loss Usher syndrome type 2A [RCV003236726] Chr1:216138660..216270555 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2168-61T>C single nucleotide variant not provided [RCV001560690] Chr1:216247287 [GRCh38]
Chr1:216420629 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9055+196del deletion not provided [RCV001560875] Chr1:215845628 [GRCh38]
Chr1:216018970 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.849-65G>C single nucleotide variant not provided [RCV001556008] Chr1:216325664 [GRCh38]
Chr1:216499006 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9371+296C>T single nucleotide variant not provided [RCV001561477] Chr1:215837695 [GRCh38]
Chr1:216011037 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12067-273C>T single nucleotide variant not provided [RCV001574267] Chr1:215680649 [GRCh38]
Chr1:215853991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2815del (p.Tyr939fs) deletion not provided [RCV001008561] Chr1:216232131 [GRCh38]
Chr1:216405473 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10424G>A (p.Arg3475Lys) single nucleotide variant not provided [RCV001056945] Chr1:215782899 [GRCh38]
Chr1:215956241 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13587del (p.Ser4530fs) deletion not provided [RCV001008896] Chr1:215674324 [GRCh38]
Chr1:215847666 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2599C>T (p.Gln867Ter) single nucleotide variant not provided [RCV001054604] Chr1:216246795 [GRCh38]
Chr1:216420137 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) indel Usher syndrome type 2 [RCV001199587]|Usher syndrome type 2A [RCV003455055]|not provided [RCV001008056] Chr1:216323502..216323503 [GRCh38]
Chr1:216496844..216496845 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5573-843A>G single nucleotide variant not provided [RCV001700805] Chr1:216074143 [GRCh38]
Chr1:216247485 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14583-110T>C single nucleotide variant not provided [RCV001589375] Chr1:215647840 [GRCh38]
Chr1:215821182 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4758+192G>A single nucleotide variant not provided [RCV001592231] Chr1:216096891 [GRCh38]
Chr1:216270233 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9959-330G>C single nucleotide variant not provided [RCV001619325] Chr1:215790612 [GRCh38]
Chr1:215963954 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9740-259T>C single nucleotide variant not provided [RCV001536159] Chr1:215799384 [GRCh38]
Chr1:215972726 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.2993+94dup duplication not provided [RCV001639567] Chr1:216231851..216231852 [GRCh38]
Chr1:216405193..216405194 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+6877A>G single nucleotide variant not provided [RCV001595720] Chr1:216168375 [GRCh38]
Chr1:216341717 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1645-257C>T single nucleotide variant not provided [RCV001672055] Chr1:216292627 [GRCh38]
Chr1:216465969 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.652-24A>T single nucleotide variant not provided [RCV001716641] Chr1:216365109 [GRCh38]
Chr1:216538451 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1144-28A>C single nucleotide variant not provided [RCV001716642] Chr1:216324380 [GRCh38]
Chr1:216497722 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11389+307_11389+308del deletion not provided [RCV001545462] Chr1:215758287..215758288 [GRCh38]
Chr1:215931629..215931630 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-309G>A single nucleotide variant not provided [RCV001594096] Chr1:216190676 [GRCh38]
Chr1:216364018 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15519+23G>A single nucleotide variant not provided [RCV001638935] Chr1:215628791 [GRCh38]
Chr1:215802133 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1550+194del deletion not provided [RCV001717709] Chr1:216323280 [GRCh38]
Chr1:216496622 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7594+194G>A single nucleotide variant not provided [RCV001655971] Chr1:215899881 [GRCh38]
Chr1:216073223 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6050-114G>A single nucleotide variant not provided [RCV001537593] Chr1:216048761 [GRCh38]
Chr1:216222103 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+2086T>G single nucleotide variant not provided [RCV001686150] Chr1:216173166 [GRCh38]
Chr1:216346508 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+4029G>A single nucleotide variant not provided [RCV001653145] Chr1:216171223 [GRCh38]
Chr1:216344565 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6326-179A>G single nucleotide variant not provided [RCV001582011] Chr1:216000741 [GRCh38]
Chr1:216174083 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+69C>T single nucleotide variant not provided [RCV001641616] Chr1:215798838 [GRCh38]
Chr1:215972180 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11712-104A>T single nucleotide variant not provided [RCV001662908] Chr1:215728488 [GRCh38]
Chr1:215901830 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9740-202T>C single nucleotide variant not provided [RCV001655284] Chr1:215799327 [GRCh38]
Chr1:215972669 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9571-127G>A single nucleotide variant not provided [RCV001717128] Chr1:215814031 [GRCh38]
Chr1:215987373 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1143+173C>G single nucleotide variant not provided [RCV001677549] Chr1:216325132 [GRCh38]
Chr1:216498474 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10741-223G>A single nucleotide variant not provided [RCV001597986] Chr1:215780264 [GRCh38]
Chr1:215953606 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6657+100del deletion not provided [RCV001619460] Chr1:215998787 [GRCh38]
Chr1:216172129 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12295-86G>C single nucleotide variant not provided [RCV001715338] Chr1:215675702 [GRCh38]
Chr1:215849044 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11548+98G>A single nucleotide variant not provided [RCV001715339] Chr1:215743079 [GRCh38]
Chr1:215916421 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-81C>T single nucleotide variant not provided [RCV001617518] Chr1:215743416 [GRCh38]
Chr1:215916758 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12067-32_12067-31del deletion not provided [RCV001593446] Chr1:215680407..215680408 [GRCh38]
Chr1:215853749..215853750 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6049+37C>T single nucleotide variant not provided [RCV001719674] Chr1:216070064 [GRCh38]
Chr1:216243406 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7595-2445G>A single nucleotide variant not provided [RCV001598255] Chr1:215891499 [GRCh38]
Chr1:216064841 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41(chr1:215970331-216084727)x1 copy number loss not provided [RCV001005171] Chr1:215970331..216084727 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15053-27T>G single nucleotide variant not provided [RCV001587818] Chr1:215634730 [GRCh38]
Chr1:215808072 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-101_11390-95del deletion not provided [RCV001717704] Chr1:215743430..215743436 [GRCh38]
Chr1:215916772..215916778 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6958-132G>A single nucleotide variant not provided [RCV001718348] Chr1:215965611 [GRCh38]
Chr1:216138953 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4628-136A>G single nucleotide variant not provided [RCV001718376] Chr1:216097349 [GRCh38]
Chr1:216270691 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9571-268T>G single nucleotide variant not provided [RCV001635841] Chr1:215814172 [GRCh38]
Chr1:215987514 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1550+172TA[11] microsatellite not provided [RCV001676333] Chr1:216323277..216323280 [GRCh38]
Chr1:216496619..216496622 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14968+56C>T single nucleotide variant not provided [RCV001654242] Chr1:215640502 [GRCh38]
Chr1:215813844 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-52AT[11] microsatellite not provided [RCV001638257] Chr1:215743371..215743372 [GRCh38]
Chr1:215916713..215916714 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15052+151G>T single nucleotide variant not provided [RCV001678121] Chr1:215639004 [GRCh38]
Chr1:215812346 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10940-235A>G single nucleotide variant not provided [RCV001596422] Chr1:215767023 [GRCh38]
Chr1:215940365 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1550+172TA[15] microsatellite not provided [RCV001596157] Chr1:216323276..216323277 [GRCh38]
Chr1:216496618..216496619 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1971+85G>A single nucleotide variant not provided [RCV001599018] Chr1:216289195 [GRCh38]
Chr1:216462537 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-83T>C single nucleotide variant not provided [RCV001599082] Chr1:215743418 [GRCh38]
Chr1:215916760 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14343+259G>C single nucleotide variant not provided [RCV001596350] Chr1:215650333 [GRCh38]
Chr1:215823675 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+162T>C single nucleotide variant not provided [RCV001608188] Chr1:215798745 [GRCh38]
Chr1:215972087 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+9916T>C single nucleotide variant not provided [RCV001641182] Chr1:216165336 [GRCh38]
Chr1:216338678 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp) single nucleotide variant Usher syndrome type 2A [RCV003455293]|not provided [RCV001067445] Chr1:215798980 [GRCh38]
Chr1:215972322 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly) single nucleotide variant Usher syndrome type 2A [RCV001276246]|not provided [RCV001049480] Chr1:216073279 [GRCh38]
Chr1:216246621 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) microsatellite Usher syndrome type 2 [RCV001199803]|Usher syndrome type 2A [RCV003455059]|not provided [RCV001091134] Chr1:216048568..216048569 [GRCh38]
Chr1:216221910..216221911 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter) single nucleotide variant not provided [RCV001093205] Chr1:216422073 [GRCh38]
Chr1:216595415 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5776+5T>A single nucleotide variant not provided [RCV001056940] Chr1:216073092 [GRCh38]
Chr1:216246434 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala) single nucleotide variant Retinal dystrophy [RCV001073507]|Usher syndrome type 2A [RCV001832460]|not provided [RCV001049404] Chr1:215867094 [GRCh38]
Chr1:216040436 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12040C>T (p.Pro4014Ser) single nucleotide variant not provided [RCV001069834] Chr1:215728056 [GRCh38]
Chr1:215901398 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) indel Usher syndrome type 2A [RCV001004141] Chr1:215674117..215674129 [GRCh38]
Chr1:215847459..215847471 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003455244]|Usher syndrome type 2A [RCV001832494]|not provided [RCV001054373] Chr1:215844443 [GRCh38]
Chr1:216017785 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) single nucleotide variant Retinal dystrophy [RCV001075376]|Retinitis pigmentosa 39 [RCV003455229]|USH2A-related condition [RCV003396674]|Usher syndrome type 2A [RCV003455228]|not provided [RCV001052468] Chr1:215879090 [GRCh38]
Chr1:216052432 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) single nucleotide variant Usher syndrome type 2 [RCV001003253] Chr1:215671082 [GRCh38]
Chr1:215844424 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) deletion Usher syndrome type 2 [RCV001003258]|not provided [RCV002549205] Chr1:215680329 [GRCh38]
Chr1:215853671 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8721T>A (p.Ser2907Arg) single nucleotide variant Usher syndrome type 2 [RCV001003265] Chr1:215867131 [GRCh38]
Chr1:216040473 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) single nucleotide variant Usher syndrome type 2 [RCV001003272] Chr1:216078142 [GRCh38]
Chr1:216251484 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1856T>C (p.Leu619Pro) single nucleotide variant Usher syndrome type 2 [RCV001003282] Chr1:216289395 [GRCh38]
Chr1:216462737 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4627+32G>T single nucleotide variant Retinitis pigmentosa [RCV001100419]|Usher syndrome type 2A [RCV001100420] Chr1:216175220 [GRCh38]
Chr1:216348562 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001330640]|Usher syndrome type 2A [RCV001273053]|not provided [RCV001061885] Chr1:216097144 [GRCh38]
Chr1:216270486 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg) single nucleotide variant Usher syndrome type 2A [RCV001832555]|not provided [RCV001062293] Chr1:216246594 [GRCh38]
Chr1:216419936 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val) single nucleotide variant Usher syndrome type 2A [RCV001827395]|not provided [RCV001062294] Chr1:215877767 [GRCh38]
Chr1:216051109 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12525G>T (p.Trp4175Cys) single nucleotide variant not provided [RCV001062307] Chr1:215675386 [GRCh38]
Chr1:215848728 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala) single nucleotide variant Usher syndrome type 2A [RCV001278877]|not provided [RCV001057561] Chr1:215844409 [GRCh38]
Chr1:216017751 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+10T>C single nucleotide variant Retinitis pigmentosa [RCV001102382]|Usher syndrome type 2A [RCV001102383]|not provided [RCV001395518] Chr1:216175242 [GRCh38]
Chr1:216348584 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3812-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446588]|Retinitis pigmentosa [RCV001199581]|not provided [RCV001092378] Chr1:216198586 [GRCh38]
Chr1:216371928 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4627+28A>G single nucleotide variant Retinitis pigmentosa [RCV001100422]|Usher syndrome type 2A [RCV001100421] Chr1:216175224 [GRCh38]
Chr1:216348566 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14968+2T>G single nucleotide variant not provided [RCV001063419] Chr1:215640556 [GRCh38]
Chr1:215813898 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14750G>A (p.Ser4917Asn) single nucleotide variant not provided [RCV001060161] Chr1:215647563 [GRCh38]
Chr1:215820905 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu) single nucleotide variant Usher syndrome type 2A [RCV001276970]|not provided [RCV001061068] Chr1:215888470 [GRCh38]
Chr1:216061812 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3509C>T (p.Thr1170Ile) single nucleotide variant not specified [RCV001195271] Chr1:216199929 [GRCh38]
Chr1:216373271 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10749A>C (p.Ala3583=) single nucleotide variant Retinitis pigmentosa 39 [RCV003449632]|Usher syndrome type 2A [RCV003449631]|not provided [RCV002071846]|not specified [RCV001195478] Chr1:215780033 [GRCh38]
Chr1:215953375 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003449783]|Usher syndrome type 2A [RCV001835272]|not provided [RCV001246547] Chr1:215675187 [GRCh38]
Chr1:215848529 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter) single nucleotide variant Usher syndrome type 2A [RCV001250804] Chr1:216321913 [GRCh38]
Chr1:216495255 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.750A>C (p.Ala250=) single nucleotide variant not provided [RCV001649661] Chr1:216364987 [GRCh38]
Chr1:216538329 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1550+194_1550+196del deletion not provided [RCV001590187] Chr1:216323278..216323280 [GRCh38]
Chr1:216496620..216496622 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003455048]|Retinitis pigmentosa [RCV001003273]|Usher syndrome type 2A [RCV003455047]|not provided [RCV002549206]|not specified [RCV002509588] Chr1:216175335 [GRCh38]
Chr1:216348677 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2109T>G (p.Asp703Glu) single nucleotide variant Usher syndrome type 2 [RCV001003281] Chr1:216250961 [GRCh38]
Chr1:216424303 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala) single nucleotide variant Usher syndrome type 2A [RCV001832547]|not provided [RCV001061178] Chr1:215790148 [GRCh38]
Chr1:215963490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003455456]|Retinitis pigmentosa [RCV001099204]|Usher syndrome type 2A [RCV001099203]|not provided [RCV002554933] Chr1:216325379 [GRCh38]
Chr1:216498721 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15052+171T>G single nucleotide variant not provided [RCV001541388] Chr1:215638984 [GRCh38]
Chr1:215812326 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1093C>T (p.Leu365Phe) single nucleotide variant not provided [RCV001644188] Chr1:216325355 [GRCh38]
Chr1:216498697 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14969-261G>A single nucleotide variant not provided [RCV001683968] Chr1:215639499 [GRCh38]
Chr1:215812841 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003451827]|Usher syndrome type 2A [RCV001836463]|not provided [RCV001590373] Chr1:215888427 [GRCh38]
Chr1:216061769 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1550+172TA[9] microsatellite not provided [RCV001684382] Chr1:216323277..216323284 [GRCh38]
Chr1:216496619..216496626 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003455042]|Usher syndrome type 2A [RCV001836059]|not provided [RCV001350169]|not specified [RCV001002428] Chr1:216083499 [GRCh38]
Chr1:216256841 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.532dup (p.Thr178fs) duplication Usher syndrome type 2A [RCV001004147] Chr1:216418632..216418633 [GRCh38]
Chr1:216591974..216591975 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) deletion Retinitis pigmentosa 39 [RCV003455185]|Usher syndrome type 2A [RCV002497384]|Usher syndrome type 2A [RCV003455184]|not provided [RCV001045848] Chr1:216198350 [GRCh38]
Chr1:216371692 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6931del (p.Ala2311fs) deletion not provided [RCV001067372] Chr1:215970651 [GRCh38]
Chr1:216143993 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5120A>G (p.Glu1707Gly) single nucleotide variant not provided [RCV001047348] Chr1:216084745 [GRCh38]
Chr1:216258087 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11231+45C>T single nucleotide variant Usher syndrome type 2A [RCV001532785]|not provided [RCV001619941] Chr1:215759615 [GRCh38]
Chr1:215932957 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.486-147A>G single nucleotide variant not provided [RCV001614223] Chr1:216418826 [GRCh38]
Chr1:216592168 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1551-233A>C single nucleotide variant not provided [RCV001694437] Chr1:216322209 [GRCh38]
Chr1:216495551 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003461305]|Retinitis pigmentosa [RCV001003252]|Usher syndrome type 2A [RCV001836060]|not provided [RCV001240871] Chr1:215648760 [GRCh38]
Chr1:215822102 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) single nucleotide variant Retinitis pigmentosa [RCV001003261] Chr1:215782049 [GRCh38]
Chr1:215955391 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) single nucleotide variant Retinitis pigmentosa [RCV001003289]|Usher syndrome type 2A [RCV001827159]|not provided [RCV001239524] Chr1:216364983 [GRCh38]
Chr1:216538325 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5512dup (p.Tyr1838fs) duplication not provided [RCV001048993] Chr1:216078148..216078149 [GRCh38]
Chr1:216251490..216251491 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001588009]|Usher syndrome type 2A [RCV001588008] Chr1:215782151 [GRCh38]
Chr1:215955493 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001588011]|Usher syndrome type 2A [RCV001588010] Chr1:216250989 [GRCh38]
Chr1:216424331 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11390-103T>C single nucleotide variant not provided [RCV001586612] Chr1:215743438 [GRCh38]
Chr1:215916780 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.651+72G>A single nucleotide variant not provided [RCV001589604] Chr1:216418442 [GRCh38]
Chr1:216591784 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003455230]|Usher syndrome type 2A [RCV001271232]|not provided [RCV001052474] Chr1:216207363 [GRCh38]
Chr1:216380705 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9884G>A (p.Cys3295Tyr) single nucleotide variant not provided [RCV001068155] Chr1:215798981 [GRCh38]
Chr1:215972323 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4231A>T (p.Ile1411Phe) single nucleotide variant not provided [RCV001055278] Chr1:216196573 [GRCh38]
Chr1:216369915 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.163C>T (p.Gln55Ter) single nucleotide variant Usher syndrome type 2A [RCV001542517] Chr1:216422174 [GRCh38]
Chr1:216595516 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13655G>A (p.Trp4552Ter) single nucleotide variant Usher syndrome type 2A [RCV001542723] Chr1:215674256 [GRCh38]
Chr1:215847598 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12356T>C (p.Phe4119Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001542726] Chr1:215675555 [GRCh38]
Chr1:215848897 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003451855]|Retinitis pigmentosa [RCV001724835]|Usher syndrome type 2A [RCV003451854]|not provided [RCV002543874] Chr1:215634568 [GRCh38]
Chr1:215807910 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2810-1G>A single nucleotide variant Retinitis pigmentosa [RCV001724842] Chr1:216232137 [GRCh38]
Chr1:216405479 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6657+200G>T single nucleotide variant not provided [RCV001694626] Chr1:215998687 [GRCh38]
Chr1:216172029 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7595-308A>C single nucleotide variant not provided [RCV001714710] Chr1:215889362 [GRCh38]
Chr1:216062704 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.2867C>T (p.Thr956Ile) single nucleotide variant not provided [RCV001055903] Chr1:216232079 [GRCh38]
Chr1:216405421 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4082-44G>A single nucleotide variant Usher syndrome type 2A [RCV001533663]|not provided [RCV001676033] Chr1:216196766 [GRCh38]
Chr1:216370108 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3157+35G>A single nucleotide variant Usher syndrome type 2A [RCV001533665]|not provided [RCV001615256] Chr1:216217352 [GRCh38]
Chr1:216390694 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1644+34A>C single nucleotide variant Usher syndrome type 2A [RCV001533666]|not provided [RCV001707894] Chr1:216321849 [GRCh38]
Chr1:216495191 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.5573-1050GA[9] microsatellite not provided [RCV001679845] Chr1:216074325..216074332 [GRCh38]
Chr1:216247667..216247674 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15297+228C>G single nucleotide variant not provided [RCV001589750] Chr1:215634231 [GRCh38]
Chr1:215807573 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14865C>G (p.Phe4955Leu) single nucleotide variant not provided [RCV001063860] Chr1:215640661 [GRCh38]
Chr1:215814003 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3158-284_3158-283del deletion not provided [RCV001680178] Chr1:216207714..216207715 [GRCh38]
Chr1:216381056..216381057 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.*49A>C single nucleotide variant not provided [RCV001611401] Chr1:215625732 [GRCh38]
Chr1:215799074 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs) deletion Retinitis pigmentosa 39 [RCV003451822]|Usher syndrome type 2A [RCV001591883]|Usher syndrome type 2A [RCV002495940] Chr1:216246962..216246963 [GRCh38]
Chr1:216420304..216420305 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1551-9T>A single nucleotide variant Retinitis pigmentosa 39 [RCV001591884]|not provided [RCV002571161] Chr1:216321985 [GRCh38]
Chr1:216495327 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8341dup (p.Thr2781fs) duplication Usher syndrome type 2A [RCV001591886] Chr1:215878980..215878981 [GRCh38]
Chr1:216052322..216052323 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001591888]|not specified [RCV003226481] Chr1:215674632 [GRCh38]
Chr1:215847974 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val) single nucleotide variant Inborn genetic diseases [RCV002555843]|Usher syndrome type 2A [RCV001271233]|not provided [RCV001065530] Chr1:216217518 [GRCh38]
Chr1:216390860 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12067-117T>C single nucleotide variant not provided [RCV001644440] Chr1:215680493 [GRCh38]
Chr1:215853835 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11548+283G>A single nucleotide variant not provided [RCV001609832] Chr1:215742894 [GRCh38]
Chr1:215916236 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe) single nucleotide variant Inborn genetic diseases [RCV002573336]|Retinitis pigmentosa 39 [RCV003451825]|Usher syndrome type 2A [RCV001832815]|not provided [RCV001585530] Chr1:216198350 [GRCh38]
Chr1:216371692 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) deletion Retinitis pigmentosa 39 [RCV001593259]|Usher syndrome type 2A [RCV001089579]|not provided [RCV001389327] Chr1:215782083 [GRCh38]
Chr1:215955425 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4886-234C>T single nucleotide variant not provided [RCV001690333] Chr1:216087054 [GRCh38]
Chr1:216260396 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5728C>T (p.Gln1910Ter) single nucleotide variant not provided [RCV001700553] Chr1:216073145 [GRCh38]
Chr1:216246487 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His) single nucleotide variant Retinitis pigmentosa 39 [RCV003451857]|Retinitis pigmentosa [RCV001724838]|Usher syndrome type 2A [RCV003451856]|not provided [RCV002539740] Chr1:215900794 [GRCh38]
Chr1:216074136 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) duplication Retinitis pigmentosa 39 [RCV003451859]|Retinitis pigmentosa [RCV001724845]|not provided [RCV002539741] Chr1:215817175..215817176 [GRCh38]
Chr1:215990517..215990518 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9056-222C>T single nucleotide variant not provided [RCV001583350] Chr1:215844718 [GRCh38]
Chr1:216018060 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6687T>G (p.Ser2229Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001591889] Chr1:215993138 [GRCh38]
Chr1:216166480 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10711A>G (p.Thr3571Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV001591890] Chr1:215782071 [GRCh38]
Chr1:215955413 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5218del (p.Ile1740fs) deletion Retinitis pigmentosa 39 [RCV001591893] Chr1:216083536 [GRCh38]
Chr1:216256878 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11390-82_11390-81insATACAC microsatellite not provided [RCV001692531] Chr1:215743416..215743417 [GRCh38]
Chr1:215916758..215916759 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5079G>A (p.Trp1693Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003469261]|not provided [RCV001069986] Chr1:216084786 [GRCh38]
Chr1:216258128 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1550+172TA[12] microsatellite not provided [RCV001725285] Chr1:216323277..216323278 [GRCh38]
Chr1:216496619..216496620 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6657+123G>A single nucleotide variant not provided [RCV001725287] Chr1:215998764 [GRCh38]
Chr1:216172106 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14792-111del deletion not provided [RCV001612580] Chr1:215640845 [GRCh38]
Chr1:215814187 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4397-327G>A single nucleotide variant not provided [RCV001709030] Chr1:216175809 [GRCh38]
Chr1:216349151 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9571-239A>G single nucleotide variant not provided [RCV001566043] Chr1:215814143 [GRCh38]
Chr1:215987485 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451826]|Usher syndrome type 2A [RCV001832819]|not provided [RCV001588074] Chr1:215625810 [GRCh38]
Chr1:215799152 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1550+172TA[14] microsatellite not provided [RCV001581436] Chr1:216323276..216323277 [GRCh38]
Chr1:216496618..216496619 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14344-39T>C single nucleotide variant not provided [RCV001548561] Chr1:215648805 [GRCh38]
Chr1:215822147 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14968+80C>G single nucleotide variant not provided [RCV001725298] Chr1:215640478 [GRCh38]
Chr1:215813820 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9372-196A>T single nucleotide variant not provided [RCV001692953] Chr1:215817391 [GRCh38]
Chr1:215990733 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11389+145A>G single nucleotide variant not provided [RCV001581475] Chr1:215758450 [GRCh38]
Chr1:215931792 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15297+57T>C single nucleotide variant not provided [RCV001649524] Chr1:215634402 [GRCh38]
Chr1:215807744 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11231+199G>A single nucleotide variant not provided [RCV001666737] Chr1:215759461 [GRCh38]
Chr1:215932803 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.2168-187T>C single nucleotide variant not provided [RCV001589703] Chr1:216247413 [GRCh38]
Chr1:216420755 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4396+120A>G single nucleotide variant not provided [RCV001566826] Chr1:216190103 [GRCh38]
Chr1:216363445 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.409dup (p.Ser137fs) duplication Retinitis pigmentosa 39 [RCV001029955] Chr1:216421927..216421928 [GRCh38]
Chr1:216595269..216595270 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9811del (p.Met3271fs) deletion Retinitis pigmentosa 39 [RCV003467794]|not provided [RCV001058613] Chr1:215799054 [GRCh38]
Chr1:215972396 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14344-270A>G single nucleotide variant not provided [RCV001587066] Chr1:215649036 [GRCh38]
Chr1:215822378 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) single nucleotide variant Usher syndrome type 2A [RCV001004146] Chr1:216323503 [GRCh38]
Chr1:216496845 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) single nucleotide variant Usher syndrome type 2A [RCV001002710] Chr1:215741387 [GRCh38]
Chr1:215914729 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11390-93TA[7] microsatellite not provided [RCV001645540] Chr1:215743416..215743417 [GRCh38]
Chr1:215916758..215916759 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.6958-292G>A single nucleotide variant not provided [RCV001587087] Chr1:215965771 [GRCh38]
Chr1:216139113 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1841-170G>T single nucleotide variant not provided [RCV001587094] Chr1:216289580 [GRCh38]
Chr1:216462922 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10585+152C>T single nucleotide variant not provided [RCV001547916] Chr1:215782586 [GRCh38]
Chr1:215955928 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11711+191A>T single nucleotide variant not provided [RCV001588391] Chr1:215741184 [GRCh38]
Chr1:215914526 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His) single nucleotide variant Usher syndrome type 2A [RCV001832386]|not provided [RCV001038185] Chr1:216084867 [GRCh38]
Chr1:216258209 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12067-297T>G single nucleotide variant not provided [RCV001645616] Chr1:215680673 [GRCh38]
Chr1:215854015 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn) single nucleotide variant Usher syndrome type 2A [RCV001833798]|not provided [RCV001204535] Chr1:215759663 [GRCh38]
Chr1:215933005 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14493A>T (p.Gly4831=) single nucleotide variant not provided [RCV001204536] Chr1:215648617 [GRCh38]
Chr1:215821959 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003449630]|Usher syndrome type 2A [RCV003449629]|not provided [RCV002560195]|not specified [RCV001195270] Chr1:215650607 [GRCh38]
Chr1:215823949 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4126T>C (p.Tyr1376His) single nucleotide variant not provided [RCV002559239]|not specified [RCV001195477] Chr1:216196678 [GRCh38]
Chr1:216370020 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.4040G>A (p.Ser1347Asn) single nucleotide variant Usher syndrome type 2A [RCV001198450] Chr1:216198356 [GRCh38]
Chr1:216371698 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13534A>G (p.Ser4512Gly) single nucleotide variant not provided [RCV001247232] Chr1:215674377 [GRCh38]
Chr1:215847719 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003449734]|Usher syndrome type 2A [RCV001834047]|not provided [RCV001235551] Chr1:215628834 [GRCh38]
Chr1:215802176 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4823A>C (p.His1608Pro) single nucleotide variant not provided [RCV001039355] Chr1:216089075 [GRCh38]
Chr1:216262417 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6394del (p.Ser2132fs) deletion not provided [RCV001211802] Chr1:216000494 [GRCh38]
Chr1:216173836 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3604G>T (p.Glu1202Ter) single nucleotide variant not provided [RCV001235705] Chr1:216199834 [GRCh38]
Chr1:216373176 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu) single nucleotide variant Usher syndrome type 2A [RCV001833653]|not provided [RCV001067542] Chr1:216323630 [GRCh38]
Chr1:216496972 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216217387)_(216292370_?)del deletion not provided [RCV001033491] Chr1:216390729..216465712 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr) single nucleotide variant Retinal dystrophy [RCV001073547] Chr1:216097171 [GRCh38]
Chr1:216270513 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter) single nucleotide variant Retinal dystrophy [RCV001073693]|Retinitis pigmentosa 39 [RCV003455330]|not provided [RCV001862515] Chr1:215782916 [GRCh38]
Chr1:215956258 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.299T>A (p.Leu100His) single nucleotide variant Retinal dystrophy [RCV001073705] Chr1:216422038 [GRCh38]
Chr1:216595380 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu) single nucleotide variant Retinal dystrophy [RCV001073709] Chr1:215888608 [GRCh38]
Chr1:216061950 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) single nucleotide variant Retinal dystrophy [RCV001073796]|Retinitis pigmentosa 39 [RCV003455333]|Usher syndrome type 2A [RCV002505663]|Usher syndrome type 2A [RCV003455332]|not provided [RCV002554679] Chr1:215675552 [GRCh38]
Chr1:215848894 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.263G>T (p.Cys88Phe) single nucleotide variant Retinal dystrophy [RCV001074103] Chr1:216422074 [GRCh38]
Chr1:216595416 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11895del (p.Gln3966fs) deletion Retinal dystrophy [RCV001074113] Chr1:215728201 [GRCh38]
Chr1:215901543 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7633A>T (p.Lys2545Ter) single nucleotide variant not provided [RCV001232014] Chr1:215889016 [GRCh38]
Chr1:216062358 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=) single nucleotide variant Usher syndrome type 2A [RCV001276141]|not provided [RCV001062151] Chr1:215634639 [GRCh38]
Chr1:215807981 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg) single nucleotide variant Usher syndrome type 2A [RCV001828857]|not provided [RCV001233312] Chr1:216324291 [GRCh38]
Chr1:216497633 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3998C>G (p.Thr1333Ser) single nucleotide variant not provided [RCV001234784] Chr1:216198398 [GRCh38]
Chr1:216371740 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) single nucleotide variant Retinitis pigmentosa [RCV001199576]|not specified [RCV003317411] Chr1:215674628 [GRCh38]
Chr1:215847970 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter) single nucleotide variant Usher syndrome type 2 [RCV001199590] Chr1:216196594 [GRCh38]
Chr1:216369936 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6557A>C (p.Asp2186Ala) single nucleotide variant not provided [RCV001234700] Chr1:215998987 [GRCh38]
Chr1:216172329 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser) single nucleotide variant Usher syndrome type 2A [RCV001276253]|not provided [RCV001055233] Chr1:216084863 [GRCh38]
Chr1:216258205 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) single nucleotide variant Retinal dystrophy [RCV001074277]|Retinitis pigmentosa 39 [RCV003455353]|Usher syndrome type 2A [RCV003455352]|not provided [RCV001862548] Chr1:215728074 [GRCh38]
Chr1:215901416 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) deletion Retinal dystrophy [RCV001074285]|Retinitis pigmentosa 39 [RCV003455354]|not provided [RCV001862822] Chr1:215640625..215640656 [GRCh38]
Chr1:215813967..215813998 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) single nucleotide variant Retinal dystrophy [RCV001074304]|Usher syndrome [RCV003323795]|Usher syndrome type 2A [RCV002471033]|not provided [RCV001243846] Chr1:216196671 [GRCh38]
Chr1:216370013 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) single nucleotide variant Retinal dystrophy [RCV001074676]|Usher syndrome type 2A [RCV001833687]|not provided [RCV001593254]|not specified [RCV003230634] Chr1:215648553 [GRCh38]
Chr1:215821895 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1550+2T>C single nucleotide variant Retinal dystrophy [RCV001074677] Chr1:216323472 [GRCh38]
Chr1:216496814 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) single nucleotide variant Retinal dystrophy [RCV001074681]|Retinitis pigmentosa 39 [RCV003455373]|Usher syndrome type 2A [RCV002489722]|Usher syndrome type 2A [RCV003455372]|not provided [RCV001862836] Chr1:216070191 [GRCh38]
Chr1:216243533 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5506C>A (p.Pro1836Thr) single nucleotide variant Retinal dystrophy [RCV001074741]|Retinitis pigmentosa 39 [RCV003455374]|not provided [RCV001204740] Chr1:216078155 [GRCh38]
Chr1:216251497 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14649del (p.Ile4883fs) deletion Retinal dystrophy [RCV001074866]|Usher syndrome type 2A [RCV001199963] Chr1:215647664 [GRCh38]
Chr1:215821006 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter) single nucleotide variant Retinal dystrophy [RCV001074877]|Retinitis pigmentosa 39 [RCV003455386]|not provided [RCV002557918] Chr1:215813784 [GRCh38]
Chr1:215987126 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn) single nucleotide variant Inborn genetic diseases [RCV003363075]|Usher syndrome type 2A [RCV001273054]|not provided [RCV001048855] Chr1:216175292 [GRCh38]
Chr1:216348634 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.12274del (p.Arg4092fs) deletion not provided [RCV001204123] Chr1:215680169 [GRCh38]
Chr1:215853511 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1972-4C>T single nucleotide variant Retinitis pigmentosa [RCV001099031]|Usher syndrome type 2A [RCV001099032]|not provided [RCV001506006] Chr1:216251102 [GRCh38]
Chr1:216424444 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu) single nucleotide variant Retinitis pigmentosa [RCV001099110]|Usher syndrome type 2A [RCV001099111] Chr1:216323645 [GRCh38]
Chr1:216496987 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) deletion Usher syndrome type 2 [RCV001199592]|Usher syndrome type 2A [RCV003455057]|not provided [RCV001091131] Chr1:215965410 [GRCh38]
Chr1:216138752 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr) single nucleotide variant Retinitis pigmentosa [RCV001199805] Chr1:215970747 [GRCh38]
Chr1:216144089 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.55del (p.Met19fs) deletion Retinitis pigmentosa 39 [RCV003467567]|Retinitis pigmentosa [RCV001199801] Chr1:216422282 [GRCh38]
Chr1:216595624 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs) microsatellite Usher syndrome type 2 [RCV001199796] Chr1:216196619..216196620 [GRCh38]
Chr1:216369961..216369962 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter) single nucleotide variant Usher syndrome type 2 [RCV001199789] Chr1:216251084 [GRCh38]
Chr1:216424426 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3841A>T (p.Arg1281Ter) single nucleotide variant Usher syndrome type 2A [RCV001199962] Chr1:216198555 [GRCh38]
Chr1:216371897 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile) single nucleotide variant Usher syndrome type 2A [RCV001833915]|not provided [RCV001220377] Chr1:215759678 [GRCh38]
Chr1:215933020 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7023dup (p.Ser2342fs) duplication not provided [RCV001069391] Chr1:215965413..215965414 [GRCh38]
Chr1:216138755..216138756 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter) single nucleotide variant Retinal dystrophy [RCV001074890]|Retinitis pigmentosa 39 [RCV003455387]|not provided [RCV001211797] Chr1:215675611 [GRCh38]
Chr1:215848953 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys) single nucleotide variant Retinal dystrophy [RCV001074979] Chr1:215648742 [GRCh38]
Chr1:215822084 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) single nucleotide variant Retinal dystrophy [RCV001075019]|Retinitis pigmentosa 39 [RCV003455389]|Usher syndrome type 2A [RCV003455388]|not provided [RCV001362993] Chr1:215790274 [GRCh38]
Chr1:215963616 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter) single nucleotide variant Retinal dystrophy [RCV001075028]|Retinitis pigmentosa 39 [RCV003455390]|not provided [RCV002554736] Chr1:215766730 [GRCh38]
Chr1:215940072 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) deletion Retinal dystrophy [RCV001075208]|not provided [RCV002554748] Chr1:215799057..215799077 [GRCh38]
Chr1:215972399..215972419 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.14302T>C (p.Tyr4768His) single nucleotide variant not provided [RCV001040971] Chr1:215650633 [GRCh38]
Chr1:215823975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13598C>G (p.Ser4533Ter) single nucleotide variant not provided [RCV001049378] Chr1:215674313 [GRCh38]
Chr1:215847655 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4627+974T>C single nucleotide variant Retinitis pigmentosa [RCV001096789]|Usher syndrome type 2A [RCV001096790] Chr1:216174278 [GRCh38]
Chr1:216347620 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) deletion Usher syndrome type 2 [RCV001199589]|Usher syndrome type 2A [RCV003455056]|not provided [RCV001235575] Chr1:216200057 [GRCh38]
Chr1:216373399 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11549del deletion Retinitis pigmentosa 39 [RCV003469315]|Usher syndrome type 2A [RCV001199007]|not provided [RCV001385207] Chr1:215741537 [GRCh38]
Chr1:215914879 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1589C>G (p.Thr530Arg) single nucleotide variant not provided [RCV001069497] Chr1:216321938 [GRCh38]
Chr1:216495280 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15297+1G>C single nucleotide variant Retinal dystrophy [RCV001075770]|Retinitis pigmentosa 39 [RCV003446597]|Usher syndrome type 2A [RCV001276140]|not provided [RCV001048038] Chr1:215634458 [GRCh38]
Chr1:215807800 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg) single nucleotide variant Retinal dystrophy [RCV001075492] Chr1:216365052 [GRCh38]
Chr1:216538394 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1277dup (p.Asn426fs) duplication Retinal dystrophy [RCV001075525] Chr1:216324218..216324219 [GRCh38]
Chr1:216497560..216497561 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs) deletion Retinal dystrophy [RCV001075683] Chr1:216231962..216231963 [GRCh38]
Chr1:216405304..216405305 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12252del (p.Leu4085fs) deletion Retinal dystrophy [RCV001075685] Chr1:215680191 [GRCh38]
Chr1:215853533 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro) single nucleotide variant Retinal dystrophy [RCV001075693] Chr1:215970677 [GRCh38]
Chr1:216144019 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003462545]|not provided [RCV001049950]|not specified [RCV003396663] Chr1:215680349 [GRCh38]
Chr1:215853691 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter) single nucleotide variant Retinal dystrophy [RCV001073838]|Retinitis pigmentosa 39 [RCV003455223]|not provided [RCV001051415] Chr1:215998928 [GRCh38]
Chr1:216172270 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter) single nucleotide variant Retinitis pigmentosa [RCV001199808] Chr1:215867070 [GRCh38]
Chr1:216040412 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) single nucleotide variant Inborn genetic diseases [RCV002552058]|Retinitis pigmentosa 39 [RCV001593193]|Retinitis pigmentosa [RCV001097359]|Usher syndrome type 2A [RCV001097358]|not provided [RCV001034413] Chr1:216323585 [GRCh38]
Chr1:216496927 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del) microsatellite Usher syndrome type 2A [RCV001836154]|not provided [RCV001212750] Chr1:215813801..215813803 [GRCh38]
Chr1:215987143..215987145 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14324C>A (p.Ala4775Asp) single nucleotide variant not provided [RCV001213531] Chr1:215650611 [GRCh38]
Chr1:215823953 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs) duplication Retinitis pigmentosa 39 [RCV003449724]|Retinitis pigmentosa [RCV001823185]|not provided [RCV001231158] Chr1:215728273..215728274 [GRCh38]
Chr1:215901615..215901616 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys) single nucleotide variant Inborn genetic diseases [RCV003353239]|Retinitis pigmentosa 39 [RCV003449730]|Usher syndrome type 2A [RCV001834038]|not provided [RCV001234978] Chr1:216072904 [GRCh38]
Chr1:216246246 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) single nucleotide variant Retinitis pigmentosa [RCV001003254]|not provided [RCV001860532] Chr1:215674307 [GRCh38]
Chr1:215847649 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) deletion Usher syndrome type 2 [RCV001003262]|not provided [RCV001784544] Chr1:215786846 [GRCh38]
Chr1:215960188 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) single nucleotide variant Retinitis pigmentosa [RCV001003264] Chr1:215817148 [GRCh38]
Chr1:215990490 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) single nucleotide variant Retinitis pigmentosa [RCV001003276] Chr1:216217458 [GRCh38]
Chr1:216390800 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003455224]|Usher syndrome type 2A [RCV001276952]|not provided [RCV001051736]|not specified [RCV003387958] Chr1:215798916 [GRCh38]
Chr1:215972258 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7451+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003462795]|not provided [RCV001233874] Chr1:215900754 [GRCh38]
Chr1:216074096 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile) single nucleotide variant Usher syndrome type 2A [RCV001835306]|not provided [RCV001247786] Chr1:216175398 [GRCh38]
Chr1:216348740 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.13272C>A (p.Cys4424Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003462787]|Usher syndrome type 2 [RCV002307704]|not provided [RCV001231420] Chr1:215674639 [GRCh38]
Chr1:215847981 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003462803]|Usher syndrome [RCV003389490]|Usher syndrome type 2A [RCV003388606]|not provided [RCV001237068] Chr1:216324270 [GRCh38]
Chr1:216497612 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003449798]|Usher syndrome type 2A [RCV001830026]|not provided [RCV001247912] Chr1:215628977 [GRCh38]
Chr1:215802319 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln) single nucleotide variant Inborn genetic diseases [RCV003160200]|Retinitis pigmentosa 39 [RCV003455147]|Usher syndrome type 2A [RCV001832370]|not provided [RCV001035077] Chr1:215888553 [GRCh38]
Chr1:216061895 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=) single nucleotide variant Usher syndrome type 2A [RCV001273042]|not provided [RCV001035587] Chr1:216070102 [GRCh38]
Chr1:216243444 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11074del (p.Ile3692fs) deletion not provided [RCV001233120] Chr1:215759817 [GRCh38]
Chr1:215933159 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14203C>T (p.Pro4735Ser) single nucleotide variant not provided [RCV001233122] Chr1:215650732 [GRCh38]
Chr1:215824074 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.353C>T (p.Pro118Leu) single nucleotide variant not provided [RCV001207852] Chr1:216421984 [GRCh38]
Chr1:216595326 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu) single nucleotide variant Retinal dystrophy [RCV001075258]|Usher syndrome type 2A [RCV001276144]|not provided [RCV001063516] Chr1:215639178 [GRCh38]
Chr1:215812520 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu) single nucleotide variant Usher syndrome type 2A [RCV001272932]|not provided [RCV001044741] Chr1:215647713 [GRCh38]
Chr1:215821055 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449649]|Usher syndrome type 2A [RCV001828644]|not provided [RCV001204893]|not specified [RCV003331078] Chr1:215888710 [GRCh38]
Chr1:216062052 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser) single nucleotide variant Usher syndrome type 2A [RCV001835327]|not provided [RCV001248208] Chr1:216048578 [GRCh38]
Chr1:216221920 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11724_11725del (p.Gly3908_Ile3909insTer) deletion not provided [RCV001206923] Chr1:215728371..215728372 [GRCh38]
Chr1:215901713..215901714 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln) single nucleotide variant Usher syndrome type 2A [RCV001828869]|not provided [RCV001235225] Chr1:215877808 [GRCh38]
Chr1:216051150 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile) single nucleotide variant Usher syndrome type 2A [RCV001827277]|not provided [RCV001044868] Chr1:216246674 [GRCh38]
Chr1:216420016 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7025C>T (p.Ser2342Phe) single nucleotide variant not provided [RCV001044869] Chr1:215965412 [GRCh38]
Chr1:216138754 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10849A>G (p.Asn3617Asp) single nucleotide variant not provided [RCV001205095] Chr1:215779933 [GRCh38]
Chr1:215953275 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13876C>T (p.Gln4626Ter) single nucleotide variant not provided [RCV001205097] Chr1:215671229 [GRCh38]
Chr1:215844571 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4627+641G>A single nucleotide variant Retinitis pigmentosa [RCV001100306]|Usher syndrome type 2A [RCV001100307]|not provided [RCV001840783] Chr1:216174611 [GRCh38]
Chr1:216347953 [GRCh37]
Chr1:1q41
benign|likely benign|uncertain significance
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) single nucleotide variant Usher syndrome type 2A [RCV002246225]|not provided [RCV001235448] Chr1:215759796 [GRCh38]
Chr1:215933138 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9875A>G (p.Gln3292Arg) single nucleotide variant Usher syndrome type 2A [RCV001827281]|not provided [RCV001045350] Chr1:215798990 [GRCh38]
Chr1:215972332 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp) single nucleotide variant Usher syndrome type 2A [RCV001829973]|not provided [RCV001245874] Chr1:215888554 [GRCh38]
Chr1:216061896 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1652G>A (p.Arg551His) single nucleotide variant Usher syndrome type 2A [RCV001834017]|not provided [RCV001232517] Chr1:216292363 [GRCh38]
Chr1:216465705 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216364953)_(216365085_?)del deletion not provided [RCV001032489] Chr1:216538295..216538427 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8559-1G>T single nucleotide variant not provided [RCV001248098] Chr1:215877881 [GRCh38]
Chr1:216051223 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) deletion Usher syndrome type 2A [RCV001196596]|not provided [RCV001268599] Chr1:215674574..215674576 [GRCh38]
Chr1:215847916..215847918 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1666T>C (p.Tyr556His) single nucleotide variant Usher syndrome type 2A [RCV001828713]|not provided [RCV001215201] Chr1:216292349 [GRCh38]
Chr1:216465691 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14965A>T (p.Lys4989Ter) single nucleotide variant not provided [RCV001232854] Chr1:215640561 [GRCh38]
Chr1:215813903 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5266G>A (p.Val1756Ile) single nucleotide variant not provided [RCV001248223] Chr1:216083488 [GRCh38]
Chr1:216256830 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003455437]|Usher syndrome type 2A [RCV003455436]|not provided [RCV001092380] Chr1:216321947 [GRCh38]
Chr1:216495289 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4969A>G (p.Ile1657Val) single nucleotide variant not provided [RCV001092377] Chr1:216086737 [GRCh38]
Chr1:216260079 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr) single nucleotide variant Usher syndrome type 2A [RCV001834000]|not provided [RCV001231005] Chr1:216246996 [GRCh38]
Chr1:216420338 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5352dup (p.Thr1785fs) duplication not provided [RCV001207211] Chr1:216078308..216078309 [GRCh38]
Chr1:216251650..216251651 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg) single nucleotide variant Usher syndrome type 2A [RCV001833805]|not provided [RCV001205696] Chr1:215674325 [GRCh38]
Chr1:215847667 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2293C>G (p.Gln765Glu) single nucleotide variant not provided [RCV001236564] Chr1:216247101 [GRCh38]
Chr1:216420443 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216089003)_(216097223_?)del deletion not provided [RCV001033044] Chr1:216262345..216270565 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys) single nucleotide variant Usher syndrome type 2A [RCV001827299]|Usher syndrome type 2A [RCV002497387]|not provided [RCV001047311] Chr1:215674428 [GRCh38]
Chr1:215847770 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala) single nucleotide variant Usher syndrome type 2A [RCV001828633]|not provided [RCV001203360] Chr1:215674752 [GRCh38]
Chr1:215848094 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+512G>A single nucleotide variant Retinitis pigmentosa [RCV001102276]|Usher syndrome type 2A [RCV001102275] Chr1:216174740 [GRCh38]
Chr1:216348082 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003449776]|Usher syndrome type 2A [RCV001829968]|Usher syndrome type 2A [RCV002504357]|not provided [RCV001245802] Chr1:215877830 [GRCh38]
Chr1:216051172 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7591G>A (p.Asp2531Asn) single nucleotide variant not specified [RCV001195268] Chr1:215900078 [GRCh38]
Chr1:216073420 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15002A>C (p.Glu5001Ala) single nucleotide variant not specified [RCV001195269] Chr1:215639205 [GRCh38]
Chr1:215812547 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11444G>C (p.Ser3815Thr) single nucleotide variant not provided [RCV001067481] Chr1:215743281 [GRCh38]
Chr1:215916623 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10586-1G>T single nucleotide variant not provided [RCV001211324] Chr1:215782197 [GRCh38]
Chr1:215955539 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr) single nucleotide variant Usher syndrome type 2A [RCV001827326]|not provided [RCV001051891] Chr1:216199723 [GRCh38]
Chr1:216373065 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+686T>A single nucleotide variant Retinitis pigmentosa [RCV001100304]|Usher syndrome type 2A [RCV001100305] Chr1:216174566 [GRCh38]
Chr1:216347908 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+596A>G single nucleotide variant Retinitis pigmentosa [RCV001100309]|Usher syndrome type 2A [RCV001100308] Chr1:216174656 [GRCh38]
Chr1:216347998 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003449637]|Usher syndrome type 2A [RCV001199230]|not provided [RCV002561068] Chr1:216199725 [GRCh38]
Chr1:216373067 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) single nucleotide variant Inborn genetic diseases [RCV003160314]|Retinal dystrophy [RCV001073415]|Usher syndrome type 2A [RCV001272944]|Usher syndrome type 2A [RCV001805991]|not provided [RCV001043922] Chr1:215674778 [GRCh38]
Chr1:215848120 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.9093C>G (p.Ile3031Met) single nucleotide variant not provided [RCV001035799] Chr1:215844459 [GRCh38]
Chr1:216017801 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8231G>A (p.Trp2744Ter) single nucleotide variant not provided [RCV001036117] Chr1:215879091 [GRCh38]
Chr1:216052433 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) deletion Retinal dystrophy [RCV001075585]|Retinitis pigmentosa 39 [RCV003455065]|not provided [RCV001008087] Chr1:215647526 [GRCh38]
Chr1:215820868 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7019A>C (p.Gln2340Pro) single nucleotide variant Usher syndrome type 2A [RCV001836131]|not provided [RCV001201576] Chr1:215965418 [GRCh38]
Chr1:216138760 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp) single nucleotide variant Retinitis pigmentosa [RCV001199570] Chr1:215759762 [GRCh38]
Chr1:215933104 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) single nucleotide variant Retinitis pigmentosa [RCV001199571] Chr1:215741426 [GRCh38]
Chr1:215914768 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) single nucleotide variant Retinitis pigmentosa [RCV001199572] Chr1:215741387 [GRCh38]
Chr1:215914729 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003467566]|Usher syndrome type 2 [RCV001199583] Chr1:215675056 [GRCh38]
Chr1:215848398 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1891G>C (p.Asp631His) single nucleotide variant Retinitis pigmentosa 39 [RCV003449669]|Usher syndrome type 2A [RCV001828693]|Usher syndrome type 2A [RCV002484158]|not provided [RCV001212527] Chr1:216289360 [GRCh38]
Chr1:216462702 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8655_8681+1681del deletion not provided [RCV001069763] Chr1:215876077..215877784 [GRCh38]
Chr1:216049419..216051126 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10182+5T>C single nucleotide variant Retinitis pigmentosa 39 [RCV003446593]|Usher syndrome type 2A [RCV001273697]|Usher syndrome type 2A [RCV002497358]|not provided [RCV001037021] Chr1:215790054 [GRCh38]
Chr1:215963396 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8801G>C (p.Ser2934Thr) single nucleotide variant not specified [RCV001195479] Chr1:215867051 [GRCh38]
Chr1:216040393 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+510G>A single nucleotide variant Retinitis pigmentosa [RCV001096871]|Usher syndrome type 2A [RCV001096870] Chr1:216174742 [GRCh38]
Chr1:216348084 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+343A>G single nucleotide variant Retinitis pigmentosa [RCV001096874]|Usher syndrome type 2A [RCV001096875] Chr1:216174909 [GRCh38]
Chr1:216348251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003455058]|Retinitis pigmentosa [RCV001199787]|not provided [RCV001381927] Chr1:215647663 [GRCh38]
Chr1:215821005 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter) single nucleotide variant Usher syndrome type 2A [RCV003455300]|not provided [RCV001070700] Chr1:216086773 [GRCh38]
Chr1:216260115 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter) single nucleotide variant Retinal dystrophy [RCV001075003]|Retinitis pigmentosa 39 [RCV003455253]|not provided [RCV001055885] Chr1:215671067 [GRCh38]
Chr1:215844409 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.785-3C>G single nucleotide variant Retinal dystrophy [RCV001073243] Chr1:216327657 [GRCh38]
Chr1:216500999 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly) single nucleotide variant Retinal dystrophy [RCV001073280]|not provided [RCV002554652] Chr1:216078214 [GRCh38]
Chr1:216251556 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) single nucleotide variant Retinal dystrophy [RCV001073287]|Retinitis pigmentosa 39 [RCV003455309]|Usher syndrome type 2A [RCV003455308]|not provided [RCV003232212] Chr1:216217476 [GRCh38]
Chr1:216390818 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs) indel Retinal dystrophy [RCV001073386] Chr1:215671162..215671163 [GRCh38]
Chr1:215844504..215844505 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) microsatellite Retinal dystrophy [RCV001073413]|Retinitis pigmentosa 39 [RCV002067731]|Usher syndrome type 2A [RCV003455319]|not provided [RCV002557893] Chr1:215675607..215675609 [GRCh38]
Chr1:215848949..215848951 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003455155]|Usher syndrome type 2A [RCV001271978]|not provided [RCV001037714] Chr1:215889054 [GRCh38]
Chr1:216062396 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe) single nucleotide variant Retinal dystrophy [RCV001073546] Chr1:216422186 [GRCh38]
Chr1:216595528 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs) duplication Retinal dystrophy [RCV001073608] Chr1:215634635..215634636 [GRCh38]
Chr1:215807977..215807978 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) single nucleotide variant Retinal dystrophy [RCV001073610]|not specified [RCV002240642] Chr1:215970657 [GRCh38]
Chr1:216143999 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs) duplication Retinal dystrophy [RCV001073843] Chr1:215877779..215877780 [GRCh38]
Chr1:216051121..216051122 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del) deletion Retinal dystrophy [RCV001074071] Chr1:215900121..215900129 [GRCh38]
Chr1:216073463..216073471 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+1133G>A single nucleotide variant Retinitis pigmentosa [RCV001102192]|Usher syndrome type 2A [RCV001102191] Chr1:216174119 [GRCh38]
Chr1:216347461 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs) deletion Usher syndrome type 2A [RCV001827174]|not provided [RCV001009307] Chr1:215759668..215759675 [GRCh38]
Chr1:215933010..215933017 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003449562]|Retinitis pigmentosa [RCV001102478]|Usher syndrome type 2A [RCV001102479]|not provided [RCV001295995] Chr1:216198512 [GRCh38]
Chr1:216371854 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12093del (p.Leu4030_Tyr4031insTer) deletion not provided [RCV001231050] Chr1:215680350 [GRCh38]
Chr1:215853692 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) single nucleotide variant Retinitis pigmentosa [RCV001003249]|not provided [RCV002551701]|not specified [RCV003479262] Chr1:215634613 [GRCh38]
Chr1:215807955 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003449681]|Usher syndrome type 2A [RCV001836158]|not provided [RCV001215276] Chr1:215675325 [GRCh38]
Chr1:215848667 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val) single nucleotide variant Usher syndrome type 2A [RCV001827404]|not provided [RCV001063291] Chr1:216089048 [GRCh38]
Chr1:216262390 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser) single nucleotide variant Retinal dystrophy [RCV001074212]|not provided [RCV002554704] Chr1:216196702 [GRCh38]
Chr1:216370044 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn) single nucleotide variant Usher syndrome type 2A [RCV001276965]|not provided [RCV001040095] Chr1:215867028 [GRCh38]
Chr1:216040370 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr) single nucleotide variant Usher syndrome type 2A [RCV001836185]|not provided [RCV001231137] Chr1:215674763 [GRCh38]
Chr1:215848105 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7588del (p.Glu2530fs) deletion Retinitis pigmentosa 39 [RCV003469480]|Retinitis pigmentosa [RCV001249896] Chr1:215900081 [GRCh38]
Chr1:216073423 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003449726]|Usher syndrome type 2A [RCV001836187]|not provided [RCV001232405] Chr1:216048617 [GRCh38]
Chr1:216221959 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr) single nucleotide variant Retinal dystrophy [RCV001074328]|not provided [RCV001238780] Chr1:216247208 [GRCh38]
Chr1:216420550 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8682-16C>G single nucleotide variant Retinal dystrophy [RCV001074395] Chr1:215867186 [GRCh38]
Chr1:216040528 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6806-3C>T single nucleotide variant Retinal dystrophy [RCV001074397]|Retinitis pigmentosa 39 [RCV003446609]|Usher syndrome type 2A [RCV003446608]|not provided [RCV001374032] Chr1:215970779 [GRCh38]
Chr1:216144121 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs) duplication Retinal dystrophy [RCV001074675] Chr1:215670979..215670980 [GRCh38]
Chr1:215844321..215844322 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys) single nucleotide variant Retinal dystrophy [RCV001074800] Chr1:215798921 [GRCh38]
Chr1:215972263 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) single nucleotide variant Retinal dystrophy [RCV001074845]|Retinitis pigmentosa 39 [RCV003455379]|Usher syndrome type 2A [RCV003455378]|not provided [RCV001297898] Chr1:215798981 [GRCh38]
Chr1:215972323 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp) single nucleotide variant Retinal dystrophy [RCV001074995] Chr1:215674643 [GRCh38]
Chr1:215847985 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His) single nucleotide variant Usher syndrome type 2A [RCV001833872]|not provided [RCV001213918] Chr1:215782789 [GRCh38]
Chr1:215956131 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup duplication Usher syndrome type 2A [RCV001002686] Chr1:215914716..215933186 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003449791]|Usher syndrome type 2A [RCV001835283]|not provided [RCV001246817] Chr1:215728173 [GRCh38]
Chr1:215901515 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216086709)_(216097223_?)del deletion not provided [RCV001032523] Chr1:216260051..216270565 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His) single nucleotide variant Retinal dystrophy [RCV001075142] Chr1:215888460 [GRCh38]
Chr1:216061802 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val) single nucleotide variant Retinal dystrophy [RCV001075143] Chr1:215743195 [GRCh38]
Chr1:215916537 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8859del (p.Gln2954fs) deletion Retinal dystrophy [RCV001075154] Chr1:215846020 [GRCh38]
Chr1:216019362 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp) single nucleotide variant Retinal dystrophy [RCV001075250] Chr1:216232102 [GRCh38]
Chr1:216405444 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) single nucleotide variant Retinal dystrophy [RCV001075261]|Retinitis pigmentosa 39 [RCV003455409]|Usher syndrome type 2A [RCV003455408]|not provided [RCV002554753] Chr1:215846018 [GRCh38]
Chr1:216019360 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1674C>T (p.Asp558=) single nucleotide variant Retinal dystrophy [RCV001075369]|not provided [RCV001478722] Chr1:216292341 [GRCh38]
Chr1:216465683 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) single nucleotide variant Retinal dystrophy [RCV001075577]|Retinitis pigmentosa 39 [RCV003455414]|Usher syndrome type 2A [RCV001828542]|not provided [RCV001207808] Chr1:215675330 [GRCh38]
Chr1:215848672 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003455169]|Usher syndrome type 2A [RCV001274950]|not provided [RCV001040913] Chr1:215782149 [GRCh38]
Chr1:215955491 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) single nucleotide variant Usher syndrome type 2A [RCV001078203]|not provided [RCV001473362] Chr1:215743261 [GRCh38]
Chr1:215916603 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) single nucleotide variant Retinal dystrophy [RCV001075743]|Retinitis pigmentosa 39 [RCV003455421]|Usher syndrome type 2A [RCV003455420]|not provided [RCV001862630] Chr1:216217536 [GRCh38]
Chr1:216390878 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5573-834A>G single nucleotide variant Retinal dystrophy [RCV001075747]|Retinitis pigmentosa 39 [RCV003127624]|not provided [RCV001862631] Chr1:216074134 [GRCh38]
Chr1:216247476 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11548+2T>G single nucleotide variant Retinal dystrophy [RCV001075750]|Retinitis pigmentosa 39 [RCV003446615]|not provided [RCV002555917] Chr1:215743175 [GRCh38]
Chr1:215916517 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4707T>G (p.Tyr1569Ter) single nucleotide variant Retinal dystrophy [RCV001075753]|Retinitis pigmentosa 39 [RCV003455422]|not provided [RCV002555918] Chr1:216097134 [GRCh38]
Chr1:216270476 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) single nucleotide variant Hearing impairment [RCV001375204]|Retinitis pigmentosa [RCV001100844]|Usher syndrome type 2A [RCV001100845]|not provided [RCV001034143] Chr1:216289353 [GRCh38]
Chr1:216462695 [GRCh37]
Chr1:1q41
likely pathogenic|likely benign|uncertain significance
NM_206933.4(USH2A):c.5645G>A (p.Gly1882Asp) single nucleotide variant not provided [RCV001212129] Chr1:216073228 [GRCh38]
Chr1:216246570 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1184C>T (p.Thr395Met) single nucleotide variant not provided [RCV001034406] Chr1:216324312 [GRCh38]
Chr1:216497654 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser) single nucleotide variant Usher syndrome type 2A [RCV001828856]|not provided [RCV001233255] Chr1:216324238 [GRCh38]
Chr1:216497580 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu) single nucleotide variant Usher syndrome type 2A [RCV001276142]|not provided [RCV001066193] Chr1:215634667 [GRCh38]
Chr1:215808009 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11146C>T (p.Gln3716Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003473689]|not provided [RCV001066287] Chr1:215759745 [GRCh38]
Chr1:215933087 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4082-1G>A single nucleotide variant not provided [RCV001035669] Chr1:216196723 [GRCh38]
Chr1:216370065 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13240T>C (p.Tyr4414His) single nucleotide variant not provided [RCV001066465] Chr1:215674671 [GRCh38]
Chr1:215848013 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu) single nucleotide variant Inborn genetic diseases [RCV003372952]|Retinitis pigmentosa 39 [RCV003455179]|Usher syndrome type 2A [RCV001832417]|not provided [RCV001043840] Chr1:216084806 [GRCh38]
Chr1:216258148 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14344-1G>T single nucleotide variant Usher syndrome type 2A [RCV001835257]|not provided [RCV001246032] Chr1:215648767 [GRCh38]
Chr1:215822109 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257872] Chr1:215650641 [GRCh38]
Chr1:215823983 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1923T>A (p.Cys641Ter) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257873] Chr1:216289328 [GRCh38]
Chr1:216462670 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8559-160del deletion not provided [RCV001580939] Chr1:215878040 [GRCh38]
Chr1:216051382 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5550T>A (p.Tyr1850Ter) single nucleotide variant Usher syndrome type 2A [RCV001258347] Chr1:216078111 [GRCh38]
Chr1:216251453 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5026G>A (p.Val1676Ile) single nucleotide variant not provided [RCV001641774] Chr1:216084839 [GRCh38]
Chr1:216258181 [GRCh37]
Chr1:1q41
benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.11897_12003del (p.Gln3966fs) deletion Usher syndrome type 2A [RCV001260190] Chr1:215728093..215728199 [GRCh38]
Chr1:215901435..215901541 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2993+104C>T single nucleotide variant not provided [RCV001580806] Chr1:216231849 [GRCh38]
Chr1:216405191 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+7818C>T single nucleotide variant not provided [RCV001641712] Chr1:216167434 [GRCh38]
Chr1:216340776 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8324T>C (p.Val2775Ala) single nucleotide variant not provided [RCV001313450] Chr1:215878998 [GRCh38]
Chr1:216052340 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11390-113_11390-112insA insertion not provided [RCV001581271] Chr1:215743447..215743448 [GRCh38]
Chr1:215916789..215916790 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15376A>C (p.Ile5126Leu) single nucleotide variant not provided [RCV001313722] Chr1:215628957 [GRCh38]
Chr1:215802299 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5856A>G (p.Ala1952=) single nucleotide variant not provided [RCV001348377] Chr1:216072890 [GRCh38]
Chr1:216246232 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6805G>A (p.Gly2269Ser) single nucleotide variant not provided [RCV001303089] Chr1:215993020 [GRCh38]
Chr1:216166362 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257908]|Retinitis pigmentosa 39 [RCV003469488]|Usher syndrome [RCV003323835]|Usher syndrome type 2A [RCV003449817]|not provided [RCV002570628] Chr1:216327597 [GRCh38]
Chr1:216500939 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser) single nucleotide variant Inborn genetic diseases [RCV002547487]|Retinitis pigmentosa 39 [RCV003449978]|Usher syndrome type 2A [RCV001831144]|not provided [RCV001348717] Chr1:215844457 [GRCh38]
Chr1:216017799 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12578G>C (p.Arg4193Thr) single nucleotide variant not provided [RCV001350105] Chr1:215675333 [GRCh38]
Chr1:215848675 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg) single nucleotide variant Usher syndrome type 2A [RCV001278879]|not provided [RCV001871548] Chr1:215879088 [GRCh38]
Chr1:216052430 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10217C>G (p.Ser3406Cys) single nucleotide variant not provided [RCV001889573] Chr1:215786840 [GRCh38]
Chr1:215960182 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003462845]|not provided [RCV001268038] Chr1:216422161 [GRCh38]
Chr1:216595503 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser) single nucleotide variant Inborn genetic diseases [RCV002543097]|Retinitis pigmentosa 39 [RCV003449861]|Usher syndrome type 2A [RCV003449860]|not provided [RCV001303098] Chr1:215970693 [GRCh38]
Chr1:216144035 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001262309]|not provided [RCV002537633] Chr1:215799102 [GRCh38]
Chr1:215972444 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys) single nucleotide variant Usher syndrome type 2A [RCV001835536]|not provided [RCV001313209] Chr1:215650600 [GRCh38]
Chr1:215823942 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:216275329-216565051)x3 copy number gain not provided [RCV001259108] Chr1:216275329..216565051 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8224-109T>C single nucleotide variant not provided [RCV001538149] Chr1:215879207 [GRCh38]
Chr1:216052549 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.2077C>A (p.Pro693Thr) single nucleotide variant not provided [RCV001303386] Chr1:216250993 [GRCh38]
Chr1:216424335 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup) duplication not provided [RCV001268131] Chr1:215674411..215674412 [GRCh38]
Chr1:215847753..215847754 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003462847]|not provided [RCV001268158] Chr1:215674783 [GRCh38]
Chr1:215848125 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1144-2A>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446678]|Usher syndrome [RCV001779148]|Usher syndrome type 2A [RCV002491871]|Usher syndrome type 2A [RCV003446677]|not provided [RCV001268230] Chr1:216324354 [GRCh38]
Chr1:216497696 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2710_2720dup (p.Leu908fs) duplication not provided [RCV001268688] Chr1:216246673..216246674 [GRCh38]
Chr1:216420015..216420016 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14134-3G>A single nucleotide variant not provided [RCV001888962] Chr1:215650804 [GRCh38]
Chr1:215824146 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3746C>A (p.Pro1249His) single nucleotide variant not provided [RCV001302968] Chr1:216199692 [GRCh38]
Chr1:216373034 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?)) deletion Rare genetic deafness [RCV000156000] Chr1:216251431..216251704 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257906] Chr1:216198363 [GRCh38]
Chr1:216371705 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12759G>A (p.Trp4253Ter) single nucleotide variant not provided [RCV001268754] Chr1:215675152 [GRCh38]
Chr1:215848494 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9740-1G>A single nucleotide variant not provided [RCV001268770] Chr1:215799126 [GRCh38]
Chr1:215972468 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9800G>T (p.Cys3267Phe) single nucleotide variant not provided [RCV001303731] Chr1:215799065 [GRCh38]
Chr1:215972407 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn) single nucleotide variant Usher syndrome type 2A [RCV001277532] Chr1:215674982 [GRCh38]
Chr1:215848324 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8559-138C>T single nucleotide variant not provided [RCV001548708] Chr1:215878018 [GRCh38]
Chr1:216051360 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9740-222G>A single nucleotide variant not provided [RCV001568127] Chr1:215799347 [GRCh38]
Chr1:215972689 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1558T>A (p.Cys520Ser) single nucleotide variant not provided [RCV001964393] Chr1:216321969 [GRCh38]
Chr1:216495311 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10481C>G (p.Thr3494Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001262932] Chr1:215782842 [GRCh38]
Chr1:215956184 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6370_6381del (p.Thr2124_Gly2127del) deletion not provided [RCV001349717] Chr1:216000507..216000518 [GRCh38]
Chr1:216173849..216173860 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3764G>T (p.Ser1255Ile) single nucleotide variant not provided [RCV001313338] Chr1:216199674 [GRCh38]
Chr1:216373016 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6535T>C (p.Tyr2179His) single nucleotide variant not provided [RCV001337929] Chr1:215999009 [GRCh38]
Chr1:216172351 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.251G>A (p.Cys84Tyr) single nucleotide variant not provided [RCV001297295] Chr1:216422086 [GRCh38]
Chr1:216595428 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.82A>G (p.Ile28Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003449867]|Usher syndrome type 2A [RCV001835477]|not provided [RCV001305273] Chr1:216422255 [GRCh38]
Chr1:216595597 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9920G>T (p.Cys3307Phe) single nucleotide variant not provided [RCV001324867] Chr1:215798945 [GRCh38]
Chr1:215972287 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10583A>G (p.Asn3528Ser) single nucleotide variant not provided [RCV001324899] Chr1:215782740 [GRCh38]
Chr1:215956082 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003449903]|Usher syndrome type 2A [RCV003449902]|not provided [RCV001316049] Chr1:215900152 [GRCh38]
Chr1:216073494 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215799123)_(215901746_?)dup duplication not provided [RCV001317056] Chr1:215799123..215901746 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9394T>C (p.Ser3132Pro) single nucleotide variant not provided [RCV001308111] Chr1:215817173 [GRCh38]
Chr1:215990515 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2237C>T (p.Pro746Leu) single nucleotide variant not provided [RCV001338586] Chr1:216247157 [GRCh38]
Chr1:216420499 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.566G>A (p.Arg189His) single nucleotide variant Usher syndrome type 2A [RCV001830400]|not provided [RCV001338328] Chr1:216418599 [GRCh38]
Chr1:216591941 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8116C>T (p.His2706Tyr) single nucleotide variant not provided [RCV001298680] Chr1:215888533 [GRCh38]
Chr1:216061875 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8224-6T>G single nucleotide variant Usher syndrome type 2A [RCV001830152]|not provided [RCV001298683] Chr1:215879104 [GRCh38]
Chr1:216052446 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp) single nucleotide variant Usher syndrome type 2A [RCV001835473]|not provided [RCV001304889] Chr1:215628978 [GRCh38]
Chr1:215802320 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4987+5G>C single nucleotide variant not provided [RCV001301411] Chr1:216086714 [GRCh38]
Chr1:216260056 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13221G>A (p.Leu4407=) single nucleotide variant not provided [RCV001327061] Chr1:215674690 [GRCh38]
Chr1:215848032 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11383C>T (p.Pro3795Ser) single nucleotide variant not provided [RCV001307651] Chr1:215758601 [GRCh38]
Chr1:215931943 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5298+5G>A single nucleotide variant Usher syndrome type 2 [RCV002471087]|Usher syndrome type 2A [RCV001830436]|not provided [RCV001341472] Chr1:216083451 [GRCh38]
Chr1:216256793 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003449964]|Usher syndrome type 2A [RCV001825879]|Usher syndrome type 2A [RCV002476581]|not provided [RCV001342332] Chr1:215934733 [GRCh38]
Chr1:216108075 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1297C>T (p.Pro433Ser) single nucleotide variant Usher syndrome type 2A [RCV001831165]|not provided [RCV001350899] Chr1:216324199 [GRCh38]
Chr1:216497541 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2410C>T (p.Pro804Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001330637] Chr1:216246984 [GRCh38]
Chr1:216420326 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15063_15080del (p.Thr5022_Lys5027del) deletion not provided [RCV001338662] Chr1:215634676..215634693 [GRCh38]
Chr1:215808018..215808035 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.6100G>T (p.Ala2034Ser) single nucleotide variant not provided [RCV001308804] Chr1:216048597 [GRCh38]
Chr1:216221939 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile) single nucleotide variant Usher syndrome type 2A [RCV001830281]|not provided [RCV001314424] Chr1:216324324 [GRCh38]
Chr1:216497666 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.8456C>A (p.Thr2819Asn) single nucleotide variant not provided [RCV001337293] Chr1:215878866 [GRCh38]
Chr1:216052208 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys) single nucleotide variant Usher syndrome type 2A [RCV001831054]|not provided [RCV001339392] Chr1:215675001 [GRCh38]
Chr1:215848343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12828G>A (p.Met4276Ile) single nucleotide variant not provided [RCV001314831] Chr1:215675083 [GRCh38]
Chr1:215848425 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10720_10721delinsTT (p.Gly3574Phe) indel not provided [RCV001327441] Chr1:215782061..215782062 [GRCh38]
Chr1:215955403..215955404 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8671G>A (p.Gly2891Ser) single nucleotide variant not provided [RCV001298806] Chr1:215877768 [GRCh38]
Chr1:216051110 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg) single nucleotide variant Usher syndrome type 2A [RCV001831057]|not provided [RCV001339521] Chr1:215628827 [GRCh38]
Chr1:215802169 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5446G>T (p.Val1816Leu) single nucleotide variant not provided [RCV001319931] Chr1:216078215 [GRCh38]
Chr1:216251557 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg) single nucleotide variant Usher syndrome type 2A [RCV001835427]|not provided [RCV001299674] Chr1:215674521 [GRCh38]
Chr1:215847863 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys) single nucleotide variant Usher syndrome type 2A [RCV001835608]|not provided [RCV001320979] Chr1:215680178 [GRCh38]
Chr1:215853520 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn) single nucleotide variant Usher syndrome type 2A [RCV001836293]|not provided [RCV001315495] Chr1:215671150 [GRCh38]
Chr1:215844492 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1193G>T (p.Arg398Met) single nucleotide variant not provided [RCV001316919] Chr1:216324303 [GRCh38]
Chr1:216497645 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11389+2dup duplication Retinitis pigmentosa 39 [RCV003462909]|not provided [RCV001343054] Chr1:215758592..215758593 [GRCh38]
Chr1:215931934..215931935 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu) single nucleotide variant Usher syndrome type 2A [RCV001835491]|not provided [RCV001306552] Chr1:215867054 [GRCh38]
Chr1:216040396 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9961A>G (p.Met3321Val) single nucleotide variant not provided [RCV001294690] Chr1:215790280 [GRCh38]
Chr1:215963622 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6047C>T (p.Thr2016Ile) single nucleotide variant not provided [RCV001340625] Chr1:216070103 [GRCh38]
Chr1:216243445 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5776+9G>T single nucleotide variant Usher syndrome type 2A [RCV001830376]|not provided [RCV001325727] Chr1:216073088 [GRCh38]
Chr1:216246430 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449857]|Usher syndrome type 2A [RCV001830187]|not provided [RCV001302467] Chr1:215648543 [GRCh38]
Chr1:215821885 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4172G>A (p.Arg1391Lys) single nucleotide variant not provided [RCV001315914] Chr1:216196632 [GRCh38]
Chr1:216369974 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala) single nucleotide variant Usher syndrome type 2A [RCV001835584]|not provided [RCV001317998] Chr1:215888743 [GRCh38]
Chr1:216062085 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5192T>C (p.Met1731Thr) single nucleotide variant not provided [RCV001313252] Chr1:216083562 [GRCh38]
Chr1:216256904 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser) single nucleotide variant Inborn genetic diseases [RCV003355387]|Retinitis pigmentosa 39 [RCV003449918]|Usher syndrome type 2A [RCV003449917]|not provided [RCV001321350] Chr1:216217435 [GRCh38]
Chr1:216390777 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.725T>C (p.Leu242Pro) single nucleotide variant not provided [RCV001321373] Chr1:216365012 [GRCh38]
Chr1:216538354 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1684C>T (p.Arg562Cys) single nucleotide variant not provided [RCV001320656] Chr1:216292331 [GRCh38]
Chr1:216465673 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp) single nucleotide variant Usher syndrome type 2A [RCV001836271]|not provided [RCV001303570] Chr1:215728275 [GRCh38]
Chr1:215901617 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003449916]|Usher syndrome type 2A [RCV001836303]|not provided [RCV001320870] Chr1:216422146 [GRCh38]
Chr1:216595488 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11842A>G (p.Lys3948Glu) single nucleotide variant not provided [RCV001351655] Chr1:215728254 [GRCh38]
Chr1:215901596 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu) single nucleotide variant Usher syndrome type 2A [RCV001831177]|not provided [RCV001351743] Chr1:215634617 [GRCh38]
Chr1:215807959 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val) single nucleotide variant Retinitis pigmentosa 39 [RCV001334769]|Usher syndrome type 2A [RCV003449957]|not provided [RCV002546699] Chr1:215674227 [GRCh38]
Chr1:215847569 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=) single nucleotide variant Usher syndrome type 2A [RCV001830258]|not provided [RCV001309991] Chr1:215766721 [GRCh38]
Chr1:215940063 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1387_1416del (p.Tyr463_Asn472del) deletion not provided [RCV001309405] Chr1:216323608..216323637 [GRCh38]
Chr1:216496950..216496979 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.7774C>G (p.Pro2592Ala) single nucleotide variant not provided [RCV001319183] Chr1:215888875 [GRCh38]
Chr1:216062217 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala) single nucleotide variant Usher syndrome type 2A [RCV001825955]|not provided [RCV001349958] Chr1:216084703 [GRCh38]
Chr1:216258045 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val) single nucleotide variant Usher syndrome type 2A [RCV001835490]|not provided [RCV001306389] Chr1:216199992 [GRCh38]
Chr1:216373334 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9461C>T (p.Ala3154Val) single nucleotide variant not provided [RCV001306449] Chr1:215817106 [GRCh38]
Chr1:215990448 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7804G>C (p.Ala2602Pro) single nucleotide variant not provided [RCV001314354] Chr1:215888845 [GRCh38]
Chr1:216062187 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13084C>T (p.Pro4362Ser) single nucleotide variant not provided [RCV001315600] Chr1:215674827 [GRCh38]
Chr1:215848169 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.11244G>T (p.Lys3748Asn) single nucleotide variant not provided [RCV001295138] Chr1:215758740 [GRCh38]
Chr1:215932082 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser) single nucleotide variant Usher syndrome type 2A [RCV001835561]|not provided [RCV001315640] Chr1:215743290 [GRCh38]
Chr1:215916632 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10585+212T>C single nucleotide variant not provided [RCV001539215] Chr1:215782526 [GRCh38]
Chr1:215955868 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV001376242]|Usher syndrome type 2A [RCV003450037]|not provided [RCV001865889] Chr1:216327603 [GRCh38]
Chr1:216500945 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001376244]|not provided [RCV001865891] Chr1:216198568 [GRCh38]
Chr1:216371910 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.288del (p.Tyr97fs) deletion Retinitis pigmentosa 39 [RCV001376309] Chr1:216422049 [GRCh38]
Chr1:216595391 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8883A>G (p.Thr2961=) single nucleotide variant not provided [RCV001423185] Chr1:215845996 [GRCh38]
Chr1:216019338 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8799G>A (p.Ala2933=) single nucleotide variant not provided [RCV001415437] Chr1:215867053 [GRCh38]
Chr1:216040395 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14803_14804insCCATTTTCGGTGGACAGTACCACCTCA (p.Tyr4934_Arg4935insProIlePheGlyGlyGlnTyrHisLeu) insertion not provided [RCV001295302] Chr1:215640722..215640723 [GRCh38]
Chr1:215814064..215814065 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215987078)_(216108137_?)dup duplication not provided [RCV001363092] Chr1:215987078..216108137 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10041T>C (p.His3347=) single nucleotide variant not provided [RCV001433017] Chr1:215790200 [GRCh38]
Chr1:215963542 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15468C>T (p.Val5156=) single nucleotide variant not provided [RCV001414700] Chr1:215628865 [GRCh38]
Chr1:215802207 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10509T>C (p.Ser3503=) single nucleotide variant not provided [RCV001422772] Chr1:215782814 [GRCh38]
Chr1:215956156 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1422A>G (p.Pro474=) single nucleotide variant not provided [RCV001433836] Chr1:216323602 [GRCh38]
Chr1:216496944 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8137G>T (p.Ala2713Ser) single nucleotide variant not provided [RCV001422981] Chr1:215888512 [GRCh38]
Chr1:216061854 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2649del (p.Glu883fs) deletion Retinitis pigmentosa 39 [RCV003469689]|not provided [RCV001383094] Chr1:216246745 [GRCh38]
Chr1:216420087 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2393A>T (p.Asp798Val) single nucleotide variant not provided [RCV001422982] Chr1:216247001 [GRCh38]
Chr1:216420343 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1827G>A (p.Glu609=) single nucleotide variant not provided [RCV001433844] Chr1:216292188 [GRCh38]
Chr1:216465530 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4840A>C (p.Arg1614=) single nucleotide variant not provided [RCV001392823] Chr1:216089058 [GRCh38]
Chr1:216262400 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7949C>T (p.Pro2650Leu) single nucleotide variant not provided [RCV001326699] Chr1:215888700 [GRCh38]
Chr1:216062042 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3755A>G (p.Gln1252Arg) single nucleotide variant not provided [RCV001352231] Chr1:216199683 [GRCh38]
Chr1:216373025 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10867T>C (p.Tyr3623His) single nucleotide variant not provided [RCV001338035] Chr1:215779915 [GRCh38]
Chr1:215953257 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13351A>G (p.Thr4451Ala) single nucleotide variant not provided [RCV001361394] Chr1:215674560 [GRCh38]
Chr1:215847902 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val) single nucleotide variant Usher syndrome type 2A [RCV001830127]|not provided [RCV001295647] Chr1:216083584 [GRCh38]
Chr1:216256926 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10040A>C (p.His3347Pro) single nucleotide variant not provided [RCV001368625] Chr1:215790201 [GRCh38]
Chr1:215963543 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14792-128_14792-127dup duplication not provided [RCV001581493] Chr1:215640844..215640845 [GRCh38]
Chr1:215814186..215814187 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5857+116A>G single nucleotide variant not provided [RCV001581589] Chr1:216072773 [GRCh38]
Chr1:216246115 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12129T>C (p.Val4043=) single nucleotide variant not provided [RCV001422576] Chr1:215680314 [GRCh38]
Chr1:215853656 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val) single nucleotide variant Usher syndrome type 2A [RCV001831238]|not provided [RCV001363324] Chr1:216097127 [GRCh38]
Chr1:216270469 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5299-10T>C single nucleotide variant Usher syndrome type 2A [RCV001826025]|not provided [RCV001363393] Chr1:216078372 [GRCh38]
Chr1:216251714 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1758C>T (p.Tyr586=) single nucleotide variant not provided [RCV001396747] Chr1:216292257 [GRCh38]
Chr1:216465599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9055+9A>G single nucleotide variant not provided [RCV001414537] Chr1:215845815 [GRCh38]
Chr1:216019157 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4758+9G>A single nucleotide variant not provided [RCV001422327] Chr1:216097074 [GRCh38]
Chr1:216270416 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3117A>C (p.Ala1039=) single nucleotide variant not provided [RCV001391955] Chr1:216217427 [GRCh38]
Chr1:216390769 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6782G>A (p.Trp2261Ter) single nucleotide variant not provided [RCV001382722] Chr1:215993043 [GRCh38]
Chr1:216166385 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6225G>T (p.Trp2075Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003469514]|not provided [RCV001295875] Chr1:216046531 [GRCh38]
Chr1:216219873 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp) single nucleotide variant Inborn genetic diseases [RCV003375224]|Retinitis pigmentosa 39 [RCV003449935]|Usher syndrome type 2A [RCV001830371]|not provided [RCV001325326] Chr1:216084824 [GRCh38]
Chr1:216258166 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln) single nucleotide variant Usher syndrome type 2A [RCV001836317]|not provided [RCV001327134] Chr1:216422236 [GRCh38]
Chr1:216595578 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6564A>T (p.Thr2188=) single nucleotide variant not provided [RCV001396799] Chr1:215998980 [GRCh38]
Chr1:216172322 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4740T>C (p.Tyr1580=) single nucleotide variant not provided [RCV001432978] Chr1:216097101 [GRCh38]
Chr1:216270443 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5572+10A>G single nucleotide variant not provided [RCV001396973] Chr1:216078079 [GRCh38]
Chr1:216251421 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216260061)_(216270555_?)del deletion Rare genetic deafness [RCV000156001] Chr1:216260061..216270555 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8145A>G (p.Val2715=) single nucleotide variant not provided [RCV001395164] Chr1:215888504 [GRCh38]
Chr1:216061846 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1312T>A (p.Cys438Ser) single nucleotide variant not provided [RCV001358981] Chr1:216324184 [GRCh38]
Chr1:216497526 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11659T>G (p.Trp3887Gly) single nucleotide variant not provided [RCV001356968] Chr1:215741427 [GRCh38]
Chr1:215914769 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13995A>G (p.Gly4665=) single nucleotide variant not provided [RCV001395500] Chr1:215671110 [GRCh38]
Chr1:215844452 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1551-6T>C single nucleotide variant not provided [RCV001395512] Chr1:216321982 [GRCh38]
Chr1:216495324 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly) single nucleotide variant Usher syndrome type 2A [RCV001277527] Chr1:215640603 [GRCh38]
Chr1:215813945 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9056-17T>A single nucleotide variant not provided [RCV001391940] Chr1:215844513 [GRCh38]
Chr1:216017855 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10953C>T (p.Tyr3651=) single nucleotide variant not provided [RCV001414554] Chr1:215766775 [GRCh38]
Chr1:215940117 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6451del (p.Val2150_Leu2151insTer) deletion Retinitis pigmentosa 39 [RCV003462984]|not provided [RCV001382482] Chr1:216000437 [GRCh38]
Chr1:216173779 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7938C>T (p.Pro2646=) single nucleotide variant not provided [RCV001414572] Chr1:215888711 [GRCh38]
Chr1:216062053 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216380605)_(216424450_?)del deletion not provided [RCV001382820] Chr1:216380605..216424450 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV001376243]|Usher syndrome type 2A [RCV003450038]|not provided [RCV001865890] Chr1:215934691 [GRCh38]
Chr1:216108033 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001376261]|Usher syndrome type 2A [RCV003450039]|not provided [RCV001865894] Chr1:215999033 [GRCh38]
Chr1:216172375 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV001376280] Chr1:215900791 [GRCh38]
Chr1:216074133 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.2094C>G (p.Thr698=) single nucleotide variant not provided [RCV001392355] Chr1:216250976 [GRCh38]
Chr1:216424318 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV001376354] Chr1:215675063 [GRCh38]
Chr1:215848405 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15597C>T (p.Asp5199=) single nucleotide variant not provided [RCV001397213] Chr1:215625793 [GRCh38]
Chr1:215799135 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.577G>T (p.Gly193Cys) single nucleotide variant not provided [RCV001298014] Chr1:216418588 [GRCh38]
Chr1:216591930 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10940-5T>G single nucleotide variant not provided [RCV001359313] Chr1:215766793 [GRCh38]
Chr1:215940135 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8452C>T (p.Pro2818Ser) single nucleotide variant Hearing impairment [RCV001375086] Chr1:215878870 [GRCh38]
Chr1:216052212 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu) single nucleotide variant Usher syndrome type 2A [RCV001278865] Chr1:215680294 [GRCh38]
Chr1:215853636 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val) single nucleotide variant Usher syndrome type 2A [RCV001278868] Chr1:215728371 [GRCh38]
Chr1:215901713 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.-4A>G single nucleotide variant Usher syndrome type 2A [RCV001279672] Chr1:216422340 [GRCh38]
Chr1:216595682 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13614A>G (p.Pro4538=) single nucleotide variant not provided [RCV001414575] Chr1:215674297 [GRCh38]
Chr1:215847639 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6687T>C (p.Ser2229=) single nucleotide variant not provided [RCV001397422] Chr1:215993138 [GRCh38]
Chr1:216166480 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001376461] Chr1:216046489 [GRCh38]
Chr1:216219831 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11389+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV001376509]|not provided [RCV001865905] Chr1:215758594 [GRCh38]
Chr1:215931936 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2241C>T (p.Cys747=) single nucleotide variant not provided [RCV001433741] Chr1:216247153 [GRCh38]
Chr1:216420495 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_215914697)_(215933205_?)dup duplication not provided [RCV001382985] Chr1:215914697..215933205 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216536920)_216538298del deletion not provided [RCV001382987]   pathogenic
NC_000001.10:g.(?_216595257)_216601343del deletion not provided [RCV001382989]   pathogenic
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003450007]|Usher syndrome type 2A [RCV003450006]|not provided [RCV001358586] Chr1:216217518 [GRCh38]
Chr1:216390860 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.452C>G (p.Ala151Gly) single nucleotide variant not provided [RCV001370667] Chr1:216421885 [GRCh38]
Chr1:216595227 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu) single nucleotide variant Hearing impairment [RCV001375380]|Retinitis pigmentosa 39 [RCV003450036]|Usher syndrome type 2A [RCV003450035]|not provided [RCV002550217] Chr1:215790183 [GRCh38]
Chr1:215963525 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr) single nucleotide variant Usher syndrome type 2A [RCV001831284]|not provided [RCV001368988] Chr1:215647704 [GRCh38]
Chr1:215821046 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.528A>G (p.Lys176=) single nucleotide variant not provided [RCV001421306] Chr1:216418637 [GRCh38]
Chr1:216591979 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3911del (p.Ser1304fs) deletion not provided [RCV001382733] Chr1:216198485 [GRCh38]
Chr1:216371827 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13908C>G (p.Pro4636=) single nucleotide variant not provided [RCV001392050] Chr1:215671197 [GRCh38]
Chr1:215844539 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2925T>C (p.Ala975=) single nucleotide variant not provided [RCV001433901] Chr1:216232021 [GRCh38]
Chr1:216405363 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8751T>C (p.Thr2917=) single nucleotide variant not provided [RCV001433040] Chr1:215867101 [GRCh38]
Chr1:216040443 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-19A>G single nucleotide variant not provided [RCV001298316] Chr1:216073319 [GRCh38]
Chr1:216246661 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.15601C>A (p.His5201Asn) single nucleotide variant not provided [RCV001359243] Chr1:215625789 [GRCh38]
Chr1:215799131 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6968G>C (p.Arg2323Pro) single nucleotide variant not provided [RCV001358934] Chr1:215965469 [GRCh38]
Chr1:216138811 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV001376408]|not provided [RCV001871988] Chr1:215650650 [GRCh38]
Chr1:215823992 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11815_11817dup (p.Glu3939dup) duplication Retinitis pigmentosa 39 [RCV001376436] Chr1:215728278..215728279 [GRCh38]
Chr1:215901620..215901621 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5298+3A>G single nucleotide variant Retinitis pigmentosa 39 [RCV001376442] Chr1:216083453 [GRCh38]
Chr1:216256795 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8040C>T (p.Ser2680=) single nucleotide variant not provided [RCV001433938] Chr1:215888609 [GRCh38]
Chr1:216061951 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg) single nucleotide variant Inborn genetic diseases [RCV002548672]|Retinitis pigmentosa 39 [RCV003450028]|Usher syndrome type 2A [RCV001836380]|not provided [RCV001373432] Chr1:216000491 [GRCh38]
Chr1:216173833 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs) deletion Retinitis pigmentosa 39 [RCV001376455]|not provided [RCV001865901] Chr1:216190342..216190343 [GRCh38]
Chr1:216363684..216363685 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001376463] Chr1:216199932 [GRCh38]
Chr1:216373274 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8830A>C (p.Arg2944=) single nucleotide variant not provided [RCV001423099] Chr1:215867022 [GRCh38]
Chr1:216040364 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11520T>C (p.Tyr3840=) single nucleotide variant not provided [RCV001423116] Chr1:215743205 [GRCh38]
Chr1:215916547 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser) single nucleotide variant Usher syndrome type 2A [RCV001826096]|not provided [RCV001371396] Chr1:215817028 [GRCh38]
Chr1:215990370 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3158-8_3158-3del deletion not provided [RCV001360534] Chr1:216207434..216207439 [GRCh38]
Chr1:216380776..216380781 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11389G>A (p.Gly3797Arg) single nucleotide variant not provided [RCV001370519] Chr1:215758595 [GRCh38]
Chr1:215931937 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys) single nucleotide variant Usher syndrome type 2A [RCV001830208]|not provided [RCV001304380] Chr1:215648579 [GRCh38]
Chr1:215821921 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10438A>C (p.Asn3480His) single nucleotide variant not provided [RCV001362513] Chr1:215782885 [GRCh38]
Chr1:215956227 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg) single nucleotide variant Usher syndrome type 2A [RCV001826021]|not provided [RCV001362592] Chr1:215888565 [GRCh38]
Chr1:216061907 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11505T>C (p.Thr3835=) single nucleotide variant not provided [RCV001433500] Chr1:215743220 [GRCh38]
Chr1:215916562 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV001376532]|Usher syndrome type 2A [RCV003450042]|not provided [RCV001871992] Chr1:215965466 [GRCh38]
Chr1:216138808 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216591736)_216592015del deletion not provided [RCV001382986]   pathogenic
NM_206933.4(USH2A):c.10311G>A (p.Lys3437=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451732]|Usher syndrome type 2A [RCV003451731]|not provided [RCV001423122] Chr1:215786746 [GRCh38]
Chr1:215960088 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9371+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003469690]|not provided [RCV001383267] Chr1:215837990 [GRCh38]
Chr1:216011332 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV001334768]|Usher syndrome type 2A [RCV003449956]|not provided [RCV002546698] Chr1:216324250 [GRCh38]
Chr1:216497592 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11327A>G (p.Tyr3776Cys) single nucleotide variant not provided [RCV001360646] Chr1:215758657 [GRCh38]
Chr1:215931999 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe) single nucleotide variant Usher syndrome type 2A [RCV001831206]|not provided [RCV001360783] Chr1:216046559 [GRCh38]
Chr1:216219901 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8298C>G (p.Ile2766Met) single nucleotide variant not provided [RCV001360789] Chr1:215879024 [GRCh38]
Chr1:216052366 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6050-3T>C single nucleotide variant Usher syndrome type 2A [RCV001831318]|not provided [RCV001372914] Chr1:216048650 [GRCh38]
Chr1:216221992 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6371C>A (p.Thr2124Lys) single nucleotide variant not provided [RCV001361994] Chr1:216000517 [GRCh38]
Chr1:216173859 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3536T>C (p.Ile1179Thr) single nucleotide variant not provided [RCV001362002] Chr1:216199902 [GRCh38]
Chr1:216373244 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4403C>G (p.Ala1468Gly) single nucleotide variant not provided [RCV001373659] Chr1:216175476 [GRCh38]
Chr1:216348818 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1432G>T (p.Glu478Ter) single nucleotide variant not provided [RCV001382594] Chr1:216323592 [GRCh38]
Chr1:216496934 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4713A>G (p.Ala1571=) single nucleotide variant not provided [RCV001392060] Chr1:216097128 [GRCh38]
Chr1:216270470 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_215847294)_215848756del deletion not provided [RCV001382988]   pathogenic
NM_206933.4(USH2A):c.8736G>A (p.Pro2912=) single nucleotide variant not provided [RCV001397314] Chr1:215867116 [GRCh38]
Chr1:216040458 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile) single nucleotide variant Usher syndrome type 2A [RCV001831154]|not provided [RCV001350092] Chr1:216198416 [GRCh38]
Chr1:216371758 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.835G>A (p.Ala279Thr) single nucleotide variant not provided [RCV001371902] Chr1:216327604 [GRCh38]
Chr1:216500946 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13131del (p.Pro4378fs) deletion not provided [RCV001382605] Chr1:215674780 [GRCh38]
Chr1:215848122 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11862G>C (p.Leu3954=) single nucleotide variant not provided [RCV001414669] Chr1:215728234 [GRCh38]
Chr1:215901576 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12756T>C (p.Ser4252=) single nucleotide variant not provided [RCV001422697] Chr1:215675155 [GRCh38]
Chr1:215848497 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216348580)_(216896641_?)del deletion not provided [RCV001382818] Chr1:216348580..216896641 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216462602)_(216465732_?)del deletion not provided [RCV001382819] Chr1:216462602..216465732 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216270405)_(216424460_?)del deletion not provided [RCV001382821] Chr1:216270405..216424460 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4085C>T (p.Pro1362Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV001376236] Chr1:216196719 [GRCh38]
Chr1:216370061 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4771G>A (p.Glu1591Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV001376237] Chr1:216089127 [GRCh38]
Chr1:216262469 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11511C>T (p.Phe3837=) single nucleotide variant not provided [RCV001415116] Chr1:215743214 [GRCh38]
Chr1:215916556 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003449887]|Usher syndrome type 2A [RCV003449886]|not provided [RCV001310899] Chr1:216078343 [GRCh38]
Chr1:216251685 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys) single nucleotide variant Usher syndrome type 2A [RCV001831309]|not provided [RCV001371966] Chr1:215674925 [GRCh38]
Chr1:215848267 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11821C>G (p.Arg3941Gly) single nucleotide variant not provided [RCV001362218] Chr1:215728275 [GRCh38]
Chr1:215901617 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu) single nucleotide variant Usher syndrome type 2A [RCV001835544]|not provided [RCV001313682] Chr1:215634508 [GRCh38]
Chr1:215807850 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003450030]|Usher syndrome type 2A [RCV003450029]|not provided [RCV001373900] Chr1:216198372 [GRCh38]
Chr1:216371714 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6388A>T (p.Asn2130Tyr) single nucleotide variant not provided [RCV001346306] Chr1:216000500 [GRCh38]
Chr1:216173842 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3542A>C (p.Lys1181Thr) single nucleotide variant not provided [RCV001321583] Chr1:216199896 [GRCh38]
Chr1:216373238 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu) single nucleotide variant Usher syndrome type 2A [RCV001830355]|not provided [RCV001323829] Chr1:216247171 [GRCh38]
Chr1:216420513 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9383T>A (p.Ile3128Asn) single nucleotide variant not provided [RCV001323886] Chr1:215817184 [GRCh38]
Chr1:215990526 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV001578960]|Usher syndrome type 2A [RCV001578959]|not provided [RCV001371075] Chr1:216078331 [GRCh38]
Chr1:216251673 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8282T>G (p.Met2761Arg) single nucleotide variant not provided [RCV001305410] Chr1:215879040 [GRCh38]
Chr1:216052382 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn) single nucleotide variant Usher syndrome type 2A [RCV001835579]|not provided [RCV001317697] Chr1:215674467 [GRCh38]
Chr1:215847809 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5596G>A (p.Val1866Ile) single nucleotide variant not provided [RCV001318563] Chr1:216073277 [GRCh38]
Chr1:216246619 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6805+16T>C single nucleotide variant not provided [RCV001301491] Chr1:215993004 [GRCh38]
Chr1:216166346 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3575G>A (p.Gly1192Asp) single nucleotide variant Usher syndrome type 2A [RCV001830350]|not provided [RCV001322940] Chr1:216199863 [GRCh38]
Chr1:216373205 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10165A>G (p.Thr3389Ala) single nucleotide variant not provided [RCV001346605] Chr1:215790076 [GRCh38]
Chr1:215963418 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6436G>A (p.Val2146Met) single nucleotide variant not provided [RCV001346620] Chr1:216000452 [GRCh38]
Chr1:216173794 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8380G>A (p.Val2794Ile) single nucleotide variant not provided [RCV001810636] Chr1:215878942 [GRCh38]
Chr1:216052284 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5579G>A (p.Gly1860Asp) single nucleotide variant not provided [RCV001314596] Chr1:216073294 [GRCh38]
Chr1:216246636 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10866G>C (p.Glu3622Asp) single nucleotide variant not provided [RCV001306567] Chr1:215779916 [GRCh38]
Chr1:215953258 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser) single nucleotide variant Inborn genetic diseases [RCV003169679]|Retinitis pigmentosa 39 [RCV003449969]|Usher syndrome type 2A [RCV001825917]|not provided [RCV001345870] Chr1:215993158 [GRCh38]
Chr1:216166500 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9187A>G (p.Lys3063Glu) single nucleotide variant not provided [RCV001812488] Chr1:215844365 [GRCh38]
Chr1:216017707 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2305A>G (p.Lys769Glu) single nucleotide variant not provided [RCV001358965] Chr1:216247089 [GRCh38]
Chr1:216420431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12269C>G (p.Pro4090Arg) single nucleotide variant not provided [RCV001349169] Chr1:215680174 [GRCh38]
Chr1:215853516 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003449937]|Usher syndrome type 2A [RCV003449936]|not provided [RCV001325488] Chr1:215845944 [GRCh38]
Chr1:216019286 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly) single nucleotide variant Usher syndrome type 2A [RCV001831031]|not provided [RCV001327368] Chr1:215790096 [GRCh38]
Chr1:215963438 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14963A>G (p.Asp4988Gly) single nucleotide variant not provided [RCV001327397] Chr1:215640563 [GRCh38]
Chr1:215813905 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4469C>A (p.Pro1490His) single nucleotide variant not provided [RCV001317829] Chr1:216175410 [GRCh38]
Chr1:216348752 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1579T>G (p.Cys527Gly) single nucleotide variant not provided [RCV001301675] Chr1:216321948 [GRCh38]
Chr1:216495290 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala) single nucleotide variant Usher syndrome type 2A [RCV001830336]|not provided [RCV001320233] Chr1:215780019 [GRCh38]
Chr1:215953361 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7138C>T (p.Leu2380Phe) single nucleotide variant Usher syndrome type 2A [RCV001831081]|not provided [RCV001342232] Chr1:215934778 [GRCh38]
Chr1:216108120 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13870T>G (p.Phe4624Val) single nucleotide variant Usher syndrome type 2A [RCV001825933]|not provided [RCV001346744] Chr1:215671235 [GRCh38]
Chr1:215844577 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.406T>A (p.Phe136Ile) single nucleotide variant not provided [RCV001337926] Chr1:216421931 [GRCh38]
Chr1:216595273 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln) single nucleotide variant Usher syndrome type 2A [RCV001830232]|not provided [RCV001306732] Chr1:215813780 [GRCh38]
Chr1:215987122 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6963A>C (p.Glu2321Asp) single nucleotide variant not provided [RCV001352179] Chr1:215965474 [GRCh38]
Chr1:216138816 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11665C>G (p.Pro3889Ala) single nucleotide variant not provided [RCV001298060] Chr1:215741421 [GRCh38]
Chr1:215914763 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His) single nucleotide variant Usher syndrome type 2A [RCV001825881]|not provided [RCV001342336] Chr1:215634507 [GRCh38]
Chr1:215807849 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val) single nucleotide variant Usher syndrome type 2A [RCV001825937]|not provided [RCV001346887] Chr1:216089037 [GRCh38]
Chr1:216262379 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys) single nucleotide variant Usher syndrome type 2A [RCV001826038]|not provided [RCV001365214] Chr1:215674718 [GRCh38]
Chr1:215848060 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly) single nucleotide variant Inborn genetic diseases [RCV002550052]|Retinitis pigmentosa 39 [RCV003450023]|Usher syndrome type 2A [RCV003450022]|not provided [RCV001365216] Chr1:215782900 [GRCh38]
Chr1:215956242 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg) single nucleotide variant Usher syndrome type 2A [RCV001835535]|not provided [RCV001313133] Chr1:216232089 [GRCh38]
Chr1:216405431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6293A>G (p.Tyr2098Cys) single nucleotide variant not provided [RCV001323145] Chr1:216046463 [GRCh38]
Chr1:216219805 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14303A>G (p.Tyr4768Cys) single nucleotide variant not provided [RCV001345039] Chr1:215650632 [GRCh38]
Chr1:215823974 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NC_000001.10:g.(?_216591856)_(216595678_?)dup duplication not provided [RCV001347068] Chr1:216591856..216595678 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6994A>G (p.Thr2332Ala) single nucleotide variant Usher syndrome type 2A [RCV001831313]|not provided [RCV001372220] Chr1:215965443 [GRCh38]
Chr1:216138785 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp) single nucleotide variant Usher syndrome type 2A [RCV001278876]|not provided [RCV002537811] Chr1:215817167 [GRCh38]
Chr1:215990509 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9388T>C (p.Trp3130Arg) single nucleotide variant not provided [RCV001351192] Chr1:215817179 [GRCh38]
Chr1:215990521 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13811+3A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446709]|Usher syndrome type 2A [RCV001831021]|not provided [RCV001326776]|not specified [RCV001844285] Chr1:215674097 [GRCh38]
Chr1:215847439 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu) single nucleotide variant Usher syndrome type 2A [RCV001825980]|not provided [RCV001352306] Chr1:215650647 [GRCh38]
Chr1:215823989 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.785-5T>A single nucleotide variant not provided [RCV001327538] Chr1:216327659 [GRCh38]
Chr1:216501001 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13079G>A (p.Ser4360Asn) single nucleotide variant not provided [RCV001345055] Chr1:215674832 [GRCh38]
Chr1:215848174 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1039G>C (p.Asp347His) single nucleotide variant not provided [RCV001346114] Chr1:216325409 [GRCh38]
Chr1:216498751 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) single nucleotide variant Usher syndrome [RCV001553665]|Usher syndrome type 2A [RCV003449970]|not provided [RCV001346115] Chr1:216327601 [GRCh38]
Chr1:216500943 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.14272C>A (p.Pro4758Thr) single nucleotide variant not provided [RCV001374071] Chr1:215650663 [GRCh38]
Chr1:215824005 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile) single nucleotide variant Usher syndrome type 2A [RCV001279664] Chr1:216190291 [GRCh38]
Chr1:216363633 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5919G>A (p.Val1973=) single nucleotide variant Hearing impairment [RCV001375228]|Retinitis pigmentosa 39 [RCV003450034]|Usher syndrome type 2A [RCV003450033]|not provided [RCV002070247] Chr1:216070231 [GRCh38]
Chr1:216243573 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr) single nucleotide variant Usher syndrome type 2A [RCV001836258]|not provided [RCV001295370] Chr1:216198441 [GRCh38]
Chr1:216371783 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr) single nucleotide variant Usher syndrome type 2A [RCV001278873]|not provided [RCV001871547] Chr1:215786861 [GRCh38]
Chr1:215960203 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr) single nucleotide variant Usher syndrome type 2A [RCV001278878] Chr1:215845983 [GRCh38]
Chr1:216019325 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly) single nucleotide variant Usher syndrome type 2A [RCV001278882] Chr1:215888757 [GRCh38]
Chr1:216062099 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=) single nucleotide variant Usher syndrome type 2A [RCV001278883]|not provided [RCV001491560] Chr1:215900208 [GRCh38]
Chr1:216073550 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003449968]|Usher syndrome type 2A [RCV001836338]|Usher syndrome type 2A [RCV002493771]|not provided [RCV001345151] Chr1:215650741 [GRCh38]
Chr1:215824083 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13732A>C (p.Lys4578Gln) single nucleotide variant not provided [RCV001347270] Chr1:215674179 [GRCh38]
Chr1:215847521 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.60G>T (p.Leu20Phe) single nucleotide variant Usher syndrome type 2A [RCV001826009]|not provided [RCV001361506] Chr1:216422277 [GRCh38]
Chr1:216595619 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3977T>C (p.Ile1326Thr) single nucleotide variant not provided [RCV001363208] Chr1:216198419 [GRCh38]
Chr1:216371761 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003462874]|Usher syndrome type 2A [RCV001835485]|Usher syndrome type 2A [RCV002486190]|not provided [RCV001305846] Chr1:215674397 [GRCh38]
Chr1:215847739 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile) single nucleotide variant Usher syndrome type 2A [RCV001279667]|not provided [RCV001871575] Chr1:216200029 [GRCh38]
Chr1:216373371 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val) single nucleotide variant Usher syndrome type 2A [RCV001279668] Chr1:216232043 [GRCh38]
Chr1:216405385 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6341C>T (p.Thr2114Ile) single nucleotide variant not provided [RCV001323358] Chr1:216000547 [GRCh38]
Chr1:216173889 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys) single nucleotide variant Usher syndrome type 2A [RCV001825927]|not provided [RCV001346261] Chr1:215648573 [GRCh38]
Chr1:215821915 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12328T>A (p.Tyr4110Asn) single nucleotide variant not provided [RCV001361618] Chr1:215675583 [GRCh38]
Chr1:215848925 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3052A>C (p.Thr1018Pro) single nucleotide variant not provided [RCV001363337] Chr1:216217492 [GRCh38]
Chr1:216390834 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003450014]|Usher syndrome type 2A [RCV001836362]|not provided [RCV001363353] Chr1:215993074 [GRCh38]
Chr1:216166416 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001335661] Chr1:216198340 [GRCh38]
Chr1:216371682 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14422T>G (p.Cys4808Gly) single nucleotide variant not provided [RCV001299300] Chr1:215648688 [GRCh38]
Chr1:215822030 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003449911]|Usher syndrome type 2A [RCV001830326]|Usher syndrome type 2A [RCV002493671]|not provided [RCV001319294] Chr1:215674286 [GRCh38]
Chr1:215847628 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3529G>T (p.Gly1177Cys) single nucleotide variant not provided [RCV001347649] Chr1:216199909 [GRCh38]
Chr1:216373251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2168-7T>G single nucleotide variant not provided [RCV001372770] Chr1:216247233 [GRCh38]
Chr1:216420575 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8720G>A (p.Ser2907Asn) single nucleotide variant not provided [RCV001325868] Chr1:215867132 [GRCh38]
Chr1:216040474 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1472G>A (p.Gly491Glu) single nucleotide variant not provided [RCV001322396] Chr1:216323552 [GRCh38]
Chr1:216496894 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8682G>A (p.Arg2894=) single nucleotide variant not provided [RCV001347726] Chr1:215867170 [GRCh38]
Chr1:216040512 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr) single nucleotide variant Usher syndrome type 2A [RCV001826015]|not provided [RCV001361953] Chr1:216365066 [GRCh38]
Chr1:216538408 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala) single nucleotide variant Usher syndrome type 2A [RCV001836324]|not provided [RCV001338341] Chr1:215675271 [GRCh38]
Chr1:215848613 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12974C>T (p.Pro4325Leu) single nucleotide variant not provided [RCV001299526] Chr1:215674937 [GRCh38]
Chr1:215848279 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14996C>T (p.Thr4999Ile) single nucleotide variant not provided [RCV001344400] Chr1:215639211 [GRCh38]
Chr1:215812553 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr) single nucleotide variant Usher syndrome type 2A [RCV001825903]|not provided [RCV001344401] Chr1:215675454 [GRCh38]
Chr1:215848796 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8250G>C (p.Gln2750His) single nucleotide variant not provided [RCV001345404] Chr1:215879072 [GRCh38]
Chr1:216052414 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys) single nucleotide variant Inborn genetic diseases [RCV002547465]|Retinitis pigmentosa 39 [RCV003449976]|Usher syndrome type 2A [RCV001831136]|not provided [RCV001347814] Chr1:215888862 [GRCh38]
Chr1:216062204 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5123G>C (p.Gly1708Ala) single nucleotide variant not provided [RCV001362076] Chr1:216084742 [GRCh38]
Chr1:216258084 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003473854]|Usher syndrome [RCV003235546]|Usher syndrome type 2A [RCV003449895]|not provided [RCV001315188] Chr1:215674446 [GRCh38]
Chr1:215847788 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.1579T>C (p.Cys527Arg) single nucleotide variant not provided [RCV001338371] Chr1:216321948 [GRCh38]
Chr1:216495290 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9808A>G (p.Arg3270Gly) single nucleotide variant not provided [RCV001307176] Chr1:215799057 [GRCh38]
Chr1:215972399 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV001376538]|Usher syndrome type 2A [RCV001831058]|not provided [RCV001340236] Chr1:215799014 [GRCh38]
Chr1:215972356 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn) single nucleotide variant Usher syndrome type 2A [RCV001830330]|not provided [RCV001319531] Chr1:215867114 [GRCh38]
Chr1:216040456 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11261G>A (p.Gly3754Glu) single nucleotide variant not provided [RCV001322533] Chr1:215758723 [GRCh38]
Chr1:215932065 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4886G>A (p.Gly1629Asp) single nucleotide variant not provided [RCV001301033] Chr1:216086820 [GRCh38]
Chr1:216260162 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys) single nucleotide variant Usher syndrome type 2A [RCV001825870]|not provided [RCV001341617] Chr1:215647552 [GRCh38]
Chr1:215820894 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8985C>G (p.Ile2995Met) single nucleotide variant Usher syndrome type 2A [RCV001825914]|not provided [RCV001345526] Chr1:215845894 [GRCh38]
Chr1:216019236 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg) single nucleotide variant Usher syndrome type 2A [RCV001826115]|not provided [RCV001373266] Chr1:215817128 [GRCh38]
Chr1:215990470 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9460G>A (p.Ala3154Thr) single nucleotide variant Usher syndrome type 2A [RCV001826029]|not provided [RCV001364332] Chr1:215817107 [GRCh38]
Chr1:215990449 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu) single nucleotide variant Usher syndrome type 2A [RCV001830180]|not provided [RCV001301151] Chr1:215766716 [GRCh38]
Chr1:215940058 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1410C>A (p.Phe470Leu) single nucleotide variant not provided [RCV001373452] Chr1:216323614 [GRCh38]
Chr1:216496956 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala) single nucleotide variant Inborn genetic diseases [RCV002547822]|Retinitis pigmentosa 39 [RCV003450021]|Usher syndrome type 2A [RCV001826031]|not provided [RCV001364475] Chr1:216422051 [GRCh38]
Chr1:216595393 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003449988]|Usher syndrome type 2A [RCV001831174]|not provided [RCV001351730] Chr1:216070209 [GRCh38]
Chr1:216243551 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile) single nucleotide variant Usher syndrome type 2A [RCV001830424]|not provided [RCV001340449] Chr1:215867165 [GRCh38]
Chr1:216040507 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14413G>T (p.Val4805Leu) single nucleotide variant not provided [RCV001301259] Chr1:215648697 [GRCh38]
Chr1:215822039 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10417G>C (p.Glu3473Gln) single nucleotide variant not provided [RCV001301260] Chr1:215782906 [GRCh38]
Chr1:215956248 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15519+9G>C single nucleotide variant not provided [RCV001395598] Chr1:215628805 [GRCh38]
Chr1:215802147 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4096A>T (p.Ile1366Phe) single nucleotide variant Usher syndrome type 2A [RCV001835540]|not provided [RCV001313331] Chr1:216196708 [GRCh38]
Chr1:216370050 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003449894]|Usher syndrome type 2A [RCV001835553]|not provided [RCV001314425]|not specified [RCV002282515] Chr1:216422149 [GRCh38]
Chr1:216595491 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003449877]|Usher syndrome type 2A [RCV001830226]|not provided [RCV001306385] Chr1:216323636 [GRCh38]
Chr1:216496978 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr) single nucleotide variant Usher syndrome type 2A [RCV001831194]|not provided [RCV001359959] Chr1:215634614 [GRCh38]
Chr1:215807956 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys) single nucleotide variant Usher syndrome type 2A [RCV001831268]|not provided [RCV001366223] Chr1:215844367 [GRCh38]
Chr1:216017709 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6772A>G (p.Asn2258Asp) single nucleotide variant not provided [RCV001366287] Chr1:215993053 [GRCh38]
Chr1:216166395 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9338T>A (p.Ile3113Lys) single nucleotide variant not provided [RCV001350349] Chr1:215838024 [GRCh38]
Chr1:216011366 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003449846]|Usher syndrome type 2A [RCV001830130]|not provided [RCV001295873]|not specified [RCV003323848] Chr1:215671273 [GRCh38]
Chr1:215844615 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3583T>C (p.Cys1195Arg) single nucleotide variant not provided [RCV001296940] Chr1:216199855 [GRCh38]
Chr1:216373197 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.598G>A (p.Val200Ile) single nucleotide variant not provided [RCV001316004] Chr1:216418567 [GRCh38]
Chr1:216591909 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14939C>T (p.Thr4980Ile) single nucleotide variant not provided [RCV001297418] Chr1:215640587 [GRCh38]
Chr1:215813929 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8996T>C (p.Val2999Ala) single nucleotide variant not provided [RCV001326820] Chr1:215845883 [GRCh38]
Chr1:216019225 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) single nucleotide variant Retinitis pigmentosa 39 [RCV001587371]|Usher syndrome type 2A [RCV001587370]|not provided [RCV001360099] Chr1:216196553 [GRCh38]
Chr1:216369895 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.7261T>C (p.Leu2421=) single nucleotide variant not provided [RCV001395983] Chr1:215934655 [GRCh38]
Chr1:216107997 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr) single nucleotide variant Usher syndrome type 2A [RCV001831160]|not provided [RCV001350463] Chr1:215625827 [GRCh38]
Chr1:215799169 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10770G>A (p.Pro3590=) single nucleotide variant not provided [RCV001395427] Chr1:215780012 [GRCh38]
Chr1:215953354 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11095G>C (p.Glu3699Gln) single nucleotide variant not provided [RCV001337718] Chr1:215759796 [GRCh38]
Chr1:215933138 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11380A>G (p.Ile3794Val) single nucleotide variant not provided [RCV001318199] Chr1:215758604 [GRCh38]
Chr1:215931946 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1355T>A (p.Val452Asp) single nucleotide variant not provided [RCV001360245] Chr1:216323669 [GRCh38]
Chr1:216497011 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12283G>A (p.Gly4095Ser) single nucleotide variant not provided [RCV001366542] Chr1:215680160 [GRCh38]
Chr1:215853502 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) single nucleotide variant Usher syndrome type 2A [RCV001830997]|not provided [RCV001324974]|not specified [RCV003331115] Chr1:215639187 [GRCh38]
Chr1:215812529 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.11784A>T (p.Glu3928Asp) single nucleotide variant not provided [RCV001299808] Chr1:215728312 [GRCh38]
Chr1:215901654 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15582C>T (p.Arg5194=) single nucleotide variant Usher syndrome type 2A [RCV001835520]|not provided [RCV001309380] Chr1:215625808 [GRCh38]
Chr1:215799150 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1060T>A (p.Trp354Arg) single nucleotide variant not provided [RCV001366795] Chr1:216325388 [GRCh38]
Chr1:216498730 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.2(USH2A):c.11048-?_11711+?dup duplication not provided [RCV001031047] Chr1:215914717..215933185 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11913T>C (p.Pro3971=) single nucleotide variant not provided [RCV001414088] Chr1:215728183 [GRCh38]
Chr1:215901525 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13980G>A (p.Pro4660=) single nucleotide variant not provided [RCV001412508] Chr1:215671125 [GRCh38]
Chr1:215844467 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser) single nucleotide variant Retinitis pigmentosa [RCV001270351] Chr1:215965370 [GRCh38]
Chr1:216138712 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.841A>C (p.Thr281Pro) single nucleotide variant Retinitis pigmentosa [RCV001270358] Chr1:216327598 [GRCh38]
Chr1:216500940 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys) single nucleotide variant Usher syndrome type 2A [RCV001277530]|not provided [RCV001880229] Chr1:215671220 [GRCh38]
Chr1:215844562 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5988C>T (p.Ser1996=) single nucleotide variant not provided [RCV001413295] Chr1:216070162 [GRCh38]
Chr1:216243504 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216011333)_(216040512_?)del deletion Usher syndrome [RCV001449694] Chr1:216011333..216040512 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_215931937)_(215933185_?)dup duplication not provided [RCV001306002] Chr1:215931937..215933185 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr) single nucleotide variant Usher syndrome type 2A [RCV001830137]|not provided [RCV001296512] Chr1:216217449 [GRCh38]
Chr1:216390791 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12771G>A (p.Arg4257=) single nucleotide variant not provided [RCV001394778] Chr1:215675140 [GRCh38]
Chr1:215848482 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5763C>G (p.Leu1921=) single nucleotide variant not provided [RCV001413331] Chr1:216073110 [GRCh38]
Chr1:216246452 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12794G>T (p.Gly4265Val) single nucleotide variant not provided [RCV001307382] Chr1:215675117 [GRCh38]
Chr1:215848459 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4397-8del deletion not provided [RCV001396459] Chr1:216175490 [GRCh38]
Chr1:216348832 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg) single nucleotide variant Hearing impairment [RCV001375200]|Retinitis pigmentosa 39 [RCV003450032]|Usher syndrome type 2A [RCV002493907]|Usher syndrome type 2A [RCV003450031]|not provided [RCV002550207] Chr1:216251035 [GRCh38]
Chr1:216424377 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1270A>T (p.Met424Leu) single nucleotide variant Hearing impairment [RCV001375225] Chr1:216324226 [GRCh38]
Chr1:216497568 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe) single nucleotide variant Usher syndrome type 2A [RCV001831283]|not provided [RCV001368880] Chr1:215888921 [GRCh38]
Chr1:216062263 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val) single nucleotide variant Usher syndrome type 2A [RCV001278864] Chr1:215675513 [GRCh38]
Chr1:215848855 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=) single nucleotide variant Usher syndrome type 2A [RCV001278869]|not provided [RCV001475413] Chr1:215741455 [GRCh38]
Chr1:215914797 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg) single nucleotide variant Usher syndrome type 2A [RCV001278871] Chr1:215782116 [GRCh38]
Chr1:215955458 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His) single nucleotide variant Usher syndrome type 2A [RCV001278874] Chr1:215798915 [GRCh38]
Chr1:215972257 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=) single nucleotide variant Usher syndrome type 2A [RCV001278884]|not provided [RCV002069441] Chr1:215900778 [GRCh38]
Chr1:216074120 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met) single nucleotide variant Usher syndrome type 2A [RCV001279661]|not provided [RCV001871574] Chr1:215970739 [GRCh38]
Chr1:216144081 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu) single nucleotide variant Usher syndrome type 2A [RCV001279662]|not provided [RCV001343164] Chr1:216078227 [GRCh38]
Chr1:216251569 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val) single nucleotide variant Usher syndrome type 2A [RCV001279663] Chr1:216078298 [GRCh38]
Chr1:216251640 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala) single nucleotide variant Usher syndrome type 2A [RCV001279670] Chr1:216321939 [GRCh38]
Chr1:216495281 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10585+7A>G single nucleotide variant not provided [RCV001394788] Chr1:215782731 [GRCh38]
Chr1:215956073 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=) single nucleotide variant Usher syndrome type 2A [RCV001278866]|not provided [RCV001450850] Chr1:215728069 [GRCh38]
Chr1:215901411 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu) single nucleotide variant Usher syndrome type 2A [RCV001278872] Chr1:215782897 [GRCh38]
Chr1:215956239 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4252-15dup duplication Retinitis pigmentosa 39 [RCV003446680]|Usher syndrome type 2A [RCV001279665]|not provided [RCV001514179] Chr1:216190376..216190377 [GRCh38]
Chr1:216363718..216363719 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.1327A>C (p.Asn443His) single nucleotide variant Usher syndrome type 2A [RCV001279671]|not provided [RCV002537860] Chr1:216324169 [GRCh38]
Chr1:216497511 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12395T>C (p.Leu4132Pro) single nucleotide variant not provided [RCV001352493] Chr1:215675516 [GRCh38]
Chr1:215848858 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9046T>C (p.Cys3016Arg) single nucleotide variant not provided [RCV001365361] Chr1:215845833 [GRCh38]
Chr1:216019175 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val) single nucleotide variant Inborn genetic diseases [RCV002543701]|Retinitis pigmentosa 39 [RCV003449905]|Usher syndrome type 2A [RCV003449904]|not provided [RCV001316668] Chr1:215628990 [GRCh38]
Chr1:215802332 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10585+4T>G single nucleotide variant Usher syndrome type 2A [RCV001830388]|not provided [RCV001327497] Chr1:215782734 [GRCh38]
Chr1:215956076 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13424G>T (p.Arg4475Ile) single nucleotide variant not provided [RCV001367358] Chr1:215674487 [GRCh38]
Chr1:215847829 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8845+2T>G single nucleotide variant not provided [RCV001356085] Chr1:215867005 [GRCh38]
Chr1:216040347 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003449896]|Usher syndrome type 2A [RCV001830290]|Usher syndrome type 2A [RCV002476463]|not provided [RCV001315227] Chr1:215674489 [GRCh38]
Chr1:215847831 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003449872]|Usher syndrome type 2A [RCV001830224]|not provided [RCV001306149] Chr1:216251089 [GRCh38]
Chr1:216424431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3594C>T (p.Tyr1198=) single nucleotide variant not provided [RCV001412759] Chr1:216199844 [GRCh38]
Chr1:216373186 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5052G>A (p.Pro1684=) single nucleotide variant not provided [RCV001412720] Chr1:216084813 [GRCh38]
Chr1:216258155 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15336T>A (p.Pro5112=) single nucleotide variant not provided [RCV001358954] Chr1:215628997 [GRCh38]
Chr1:215802339 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu) single nucleotide variant Usher syndrome type 2A [RCV001835455]|not provided [RCV001302585] Chr1:215878932 [GRCh38]
Chr1:216052274 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5459T>C (p.Met1820Thr) single nucleotide variant not provided [RCV001413558] Chr1:216078202 [GRCh38]
Chr1:216251544 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15180C>T (p.Ser5060=) single nucleotide variant not provided [RCV001494120] Chr1:215634576 [GRCh38]
Chr1:215807918 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5859T>A (p.Ala1953=) single nucleotide variant not provided [RCV001395945] Chr1:216070291 [GRCh38]
Chr1:216243633 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val) single nucleotide variant Hearing impairment [RCV001375320]|Retinitis pigmentosa 39 [RCV003449992]|Usher syndrome type 2A [RCV003449991]|not provided [RCV001355169] Chr1:215675453 [GRCh38]
Chr1:215848795 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14396C>T (p.Thr4799Ile) single nucleotide variant Hearing impairment [RCV001375111] Chr1:215648714 [GRCh38]
Chr1:215822056 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5320T>A (p.Leu1774Met) single nucleotide variant Hearing impairment [RCV001375328] Chr1:216078341 [GRCh38]
Chr1:216251683 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13275G>A (p.Thr4425=) single nucleotide variant not provided [RCV001421232] Chr1:215674636 [GRCh38]
Chr1:215847978 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5739G>T (p.Glu1913Asp) single nucleotide variant not provided [RCV001365461] Chr1:216073134 [GRCh38]
Chr1:216246476 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12384C>T (p.Tyr4128=) single nucleotide variant not provided [RCV001494605] Chr1:215675527 [GRCh38]
Chr1:215848869 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1899G>A (p.Ser633=) single nucleotide variant not provided [RCV001396322] Chr1:216289352 [GRCh38]
Chr1:216462694 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14948T>A (p.Ile4983Lys) single nucleotide variant not provided [RCV001317282] Chr1:215640578 [GRCh38]
Chr1:215813920 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln) single nucleotide variant Usher syndrome type 2A [RCV001826043]|not provided [RCV001365550] Chr1:216247184 [GRCh38]
Chr1:216420526 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8103G>A (p.Leu2701=) single nucleotide variant not provided [RCV001412924] Chr1:215888546 [GRCh38]
Chr1:216061888 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2112A>C (p.Gly704=) single nucleotide variant not provided [RCV001412378] Chr1:216250958 [GRCh38]
Chr1:216424300 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12958G>A (p.Asp4320Asn) single nucleotide variant not provided [RCV001337408] Chr1:215674953 [GRCh38]
Chr1:215848295 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.7157T>C (p.Val2386Ala) single nucleotide variant not provided [RCV001308295] Chr1:215934759 [GRCh38]
Chr1:216108101 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu) single nucleotide variant Usher syndrome type 2A [RCV001831186]|not provided [RCV001359115] Chr1:216073141 [GRCh38]
Chr1:216246483 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1169T>G (p.Phe390Cys) single nucleotide variant not provided [RCV001365754] Chr1:216324327 [GRCh38]
Chr1:216497669 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV001376389]|Usher syndrome [RCV003155401]|not provided [RCV001365783] Chr1:216196680 [GRCh38]
Chr1:216370022 [GRCh37]
Chr1:1q41
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.8712A>G (p.Val2904=) single nucleotide variant not provided [RCV001494975] Chr1:215867140 [GRCh38]
Chr1:216040482 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5598T>C (p.Val1866=) single nucleotide variant Retinitis pigmentosa 39 [RCV001376533]|not provided [RCV001445868] Chr1:216073275 [GRCh38]
Chr1:216246617 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.13497C>A (p.Leu4499=) single nucleotide variant not provided [RCV001421811] Chr1:215674414 [GRCh38]
Chr1:215847756 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10944C>A (p.Leu3648=) single nucleotide variant not provided [RCV001396336] Chr1:215766784 [GRCh38]
Chr1:215940126 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys) single nucleotide variant Usher syndrome type 2A [RCV001830366]|not provided [RCV001324975] Chr1:215674919 [GRCh38]
Chr1:215848261 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453872]|not provided [RCV001972407] Chr1:215648564 [GRCh38]
Chr1:215821906 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12869A>T (p.Gln4290Leu) single nucleotide variant not provided [RCV001296778] Chr1:215675042 [GRCh38]
Chr1:215848384 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr) single nucleotide variant Usher syndrome type 2A [RCV001830306]|not provided [RCV001317678] Chr1:216246687 [GRCh38]
Chr1:216420029 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8475C>T (p.Gly2825=) single nucleotide variant not provided [RCV001506867] Chr1:215878847 [GRCh38]
Chr1:216052189 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1887T>A (p.Gly629=) single nucleotide variant not provided [RCV001486553] Chr1:216289364 [GRCh38]
Chr1:216462706 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4396+19A>G single nucleotide variant not provided [RCV001490138] Chr1:216190204 [GRCh38]
Chr1:216363546 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11835_11836insTCAG (p.Asn3946fs) insertion not provided [RCV001387060] Chr1:215728260..215728261 [GRCh38]
Chr1:215901602..215901603 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15298-6T>C single nucleotide variant not provided [RCV001427548] Chr1:215629041 [GRCh38]
Chr1:215802383 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8232del (p.Thr2743_Trp2744insTer) deletion Retinitis pigmentosa 39 [RCV003473922]|not provided [RCV001380112] Chr1:215879090 [GRCh38]
Chr1:216052432 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14101G>T (p.Glu4701Ter) single nucleotide variant not provided [RCV001389334] Chr1:215671004 [GRCh38]
Chr1:215844346 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13467C>A (p.Gly4489=) single nucleotide variant not provided [RCV001404489] Chr1:215674444 [GRCh38]
Chr1:215847786 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6405A>G (p.Leu2135=) single nucleotide variant not provided [RCV001477980] Chr1:216000483 [GRCh38]
Chr1:216173825 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11205T>G (p.Thr3735=) single nucleotide variant not provided [RCV001435218] Chr1:215759686 [GRCh38]
Chr1:215933028 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13266A>G (p.Val4422=) single nucleotide variant not provided [RCV001501580] Chr1:215674645 [GRCh38]
Chr1:215847987 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1791C>T (p.His597=) single nucleotide variant not provided [RCV001501599] Chr1:216292224 [GRCh38]
Chr1:216465566 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3294A>G (p.Thr1098=) single nucleotide variant not provided [RCV001481522] Chr1:216207295 [GRCh38]
Chr1:216380637 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11232-4A>G single nucleotide variant not provided [RCV001469547] Chr1:215758756 [GRCh38]
Chr1:215932098 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11149T>C (p.Leu3717=) single nucleotide variant not provided [RCV001486943] Chr1:215759742 [GRCh38]
Chr1:215933084 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9339A>C (p.Ile3113=) single nucleotide variant not provided [RCV001473049] Chr1:215838023 [GRCh38]
Chr1:216011365 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15243T>C (p.Pro5081=) single nucleotide variant not provided [RCV001473067] Chr1:215634513 [GRCh38]
Chr1:215807855 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.849-5C>T single nucleotide variant not provided [RCV001473125] Chr1:216325604 [GRCh38]
Chr1:216498946 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14940C>T (p.Thr4980=) single nucleotide variant not provided [RCV001464965] Chr1:215640586 [GRCh38]
Chr1:215813928 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14133+10G>T single nucleotide variant not provided [RCV001502541] Chr1:215670962 [GRCh38]
Chr1:215844304 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3609C>T (p.Thr1203=) single nucleotide variant not provided [RCV001485474] Chr1:216199829 [GRCh38]
Chr1:216373171 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7869A>C (p.Ala2623=) single nucleotide variant not provided [RCV001485502] Chr1:215888780 [GRCh38]
Chr1:216062122 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5832dup (p.Ser1945fs) duplication not provided [RCV001387203] Chr1:216072913..216072914 [GRCh38]
Chr1:216246255..216246256 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11288_11295del (p.Tyr3763fs) deletion not provided [RCV001389503] Chr1:215758689..215758696 [GRCh38]
Chr1:215932031..215932038 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1569T>C (p.His523=) single nucleotide variant not provided [RCV001453638] Chr1:216321958 [GRCh38]
Chr1:216495300 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.645T>C (p.Ser215=) single nucleotide variant not provided [RCV001461004] Chr1:216418520 [GRCh38]
Chr1:216591862 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11211A>G (p.Lys3737=) single nucleotide variant not provided [RCV001398978] Chr1:215759680 [GRCh38]
Chr1:215933022 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6729C>T (p.Gly2243=) single nucleotide variant not provided [RCV001457021] Chr1:215993096 [GRCh38]
Chr1:216166438 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14583-19G>A single nucleotide variant not provided [RCV001501886]|not specified [RCV001699559] Chr1:215647749 [GRCh38]
Chr1:215821091 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.14901C>G (p.Thr4967=) single nucleotide variant not provided [RCV001457117] Chr1:215640625 [GRCh38]
Chr1:215813967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7485T>C (p.Tyr2495=) single nucleotide variant not provided [RCV001504191] Chr1:215900184 [GRCh38]
Chr1:216073526 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7980G>A (p.Glu2660=) single nucleotide variant not provided [RCV001484078] Chr1:215888669 [GRCh38]
Chr1:216062011 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12621C>G (p.Ala4207=) single nucleotide variant not provided [RCV001469856] Chr1:215675290 [GRCh38]
Chr1:215848632 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12879T>C (p.Gly4293=) single nucleotide variant not provided [RCV001487245] Chr1:215675032 [GRCh38]
Chr1:215848374 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14715C>T (p.Tyr4905=) single nucleotide variant not provided [RCV001451016] Chr1:215647598 [GRCh38]
Chr1:215820940 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4397-11C>T single nucleotide variant not provided [RCV001457883] Chr1:216175493 [GRCh38]
Chr1:216348835 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7401C>G (p.Pro2467=) single nucleotide variant not provided [RCV001502654] Chr1:215900805 [GRCh38]
Chr1:216074147 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+3dup duplication not provided [RCV001519969] Chr1:215758580..215758581 [GRCh38]
Chr1:215931922..215931923 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12825T>C (p.Ser4275=) single nucleotide variant not provided [RCV001450952] Chr1:215675086 [GRCh38]
Chr1:215848428 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14740G>A (p.Glu4914Lys) single nucleotide variant not provided [RCV001427877] Chr1:215647573 [GRCh38]
Chr1:215820915 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9969T>C (p.Cys3323=) single nucleotide variant not provided [RCV001420084] Chr1:215790272 [GRCh38]
Chr1:215963614 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1841-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003469733]|not provided [RCV001387464] Chr1:216289411 [GRCh38]
Chr1:216462753 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1836_1839dup (p.Gly614fs) duplication not provided [RCV001389646] Chr1:216292175..216292176 [GRCh38]
Chr1:216465517..216465518 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1560C>T (p.Cys520=) single nucleotide variant not provided [RCV001461104] Chr1:216321967 [GRCh38]
Chr1:216495309 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14976T>C (p.Phe4992=) single nucleotide variant not provided [RCV001461124] Chr1:215639231 [GRCh38]
Chr1:215812573 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11715C>G (p.Arg3905=) single nucleotide variant not provided [RCV001490741] Chr1:215728381 [GRCh38]
Chr1:215901723 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8205G>A (p.Leu2735=) single nucleotide variant not provided [RCV001458419] Chr1:215888444 [GRCh38]
Chr1:216061786 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14958G>T (p.Thr4986=) single nucleotide variant not provided [RCV001458435] Chr1:215640568 [GRCh38]
Chr1:215813910 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2649G>A (p.Glu883=) single nucleotide variant not provided [RCV001496094] Chr1:216246745 [GRCh38]
Chr1:216420087 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12330C>T (p.Tyr4110=) single nucleotide variant not provided [RCV001468590] Chr1:215675581 [GRCh38]
Chr1:215848923 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1824T>C (p.Cys608=) single nucleotide variant not provided [RCV001450982] Chr1:216292191 [GRCh38]
Chr1:216465533 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8224-9T>C single nucleotide variant not provided [RCV001458384] Chr1:215879107 [GRCh38]
Chr1:216052449 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9042C>T (p.Thr3014=) single nucleotide variant not provided [RCV001436124] Chr1:215845837 [GRCh38]
Chr1:216019179 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5136A>C (p.Ser1712=) single nucleotide variant not provided [RCV001454087] Chr1:216084729 [GRCh38]
Chr1:216258071 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2809+1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003462953]|Usher syndrome type 2A [RCV001831348]|not provided [RCV001377902] Chr1:216246584 [GRCh38]
Chr1:216419926 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2303del (p.Cys768fs) deletion not provided [RCV001384972] Chr1:216247091 [GRCh38]
Chr1:216420433 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3812-7T>C single nucleotide variant not provided [RCV001417217] Chr1:216198591 [GRCh38]
Chr1:216371933 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14739C>T (p.Asn4913=) single nucleotide variant not provided [RCV001487652] Chr1:215647574 [GRCh38]
Chr1:215820916 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9609A>T (p.Gly3203=) single nucleotide variant not provided [RCV001487772] Chr1:215813866 [GRCh38]
Chr1:215987208 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11580C>T (p.Val3860=) single nucleotide variant Usher syndrome type 2A [RCV001836418]|not provided [RCV001487773] Chr1:215741506 [GRCh38]
Chr1:215914848 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7596A>G (p.Lys2532=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451757]|Usher syndrome type 2A [RCV003451756]|not provided [RCV001487831] Chr1:215889053 [GRCh38]
Chr1:216062395 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5868T>C (p.Ser1956=) single nucleotide variant not provided [RCV001499841] Chr1:216070282 [GRCh38]
Chr1:216243624 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2845C>T (p.Leu949=) single nucleotide variant not provided [RCV001465555] Chr1:216232101 [GRCh38]
Chr1:216405443 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.750A>G (p.Ala250=) single nucleotide variant not provided [RCV001503079] Chr1:216364987 [GRCh38]
Chr1:216538329 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.732T>G (p.Gly244=) single nucleotide variant not provided [RCV001425336] Chr1:216365005 [GRCh38]
Chr1:216538347 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8817A>T (p.Thr2939=) single nucleotide variant not provided [RCV001399883] Chr1:215867035 [GRCh38]
Chr1:216040377 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12033T>C (p.Phe4011=) single nucleotide variant not provided [RCV001436359] Chr1:215728063 [GRCh38]
Chr1:215901405 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8646A>G (p.Gly2882=) single nucleotide variant not provided [RCV001438843] Chr1:215877793 [GRCh38]
Chr1:216051135 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7491G>T (p.Val2497=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451716]|Usher syndrome type 2A [RCV003451715]|not provided [RCV001405070] Chr1:215900178 [GRCh38]
Chr1:216073520 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14331G>C (p.Gly4777=) single nucleotide variant not provided [RCV001399587] Chr1:215650604 [GRCh38]
Chr1:215823946 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-1G>A single nucleotide variant Usher syndrome [RCV002274193]|not provided [RCV001378142] Chr1:215743336 [GRCh38]
Chr1:215916678 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6762T>C (p.Pro2254=) single nucleotide variant not provided [RCV001467425] Chr1:215993063 [GRCh38]
Chr1:216166405 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6816G>A (p.Thr2272=) single nucleotide variant not provided [RCV001470780] Chr1:215970766 [GRCh38]
Chr1:216144108 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15471G>A (p.Leu5157=) single nucleotide variant not provided [RCV001470885] Chr1:215628862 [GRCh38]
Chr1:215802204 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7026C>G (p.Ser2342=) single nucleotide variant not provided [RCV001473875] Chr1:215965411 [GRCh38]
Chr1:216138753 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3387T>C (p.Asn1129=) single nucleotide variant not provided [RCV001473877] Chr1:216200051 [GRCh38]
Chr1:216373393 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4227G>A (p.Gln1409=) single nucleotide variant not provided [RCV001492514] Chr1:216196577 [GRCh38]
Chr1:216369919 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8592A>T (p.Pro2864=) single nucleotide variant not provided [RCV001492530] Chr1:215877847 [GRCh38]
Chr1:216051189 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14598C>T (p.Phe4866=) single nucleotide variant not provided [RCV001480039] Chr1:215647715 [GRCh38]
Chr1:215821057 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8985C>A (p.Ile2995=) single nucleotide variant not provided [RCV001458869] Chr1:215845894 [GRCh38]
Chr1:216019236 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14286C>T (p.Asn4762=) single nucleotide variant not provided [RCV001425289] Chr1:215650649 [GRCh38]
Chr1:215823991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.465A>G (p.Lys155=) single nucleotide variant not provided [RCV001457951] Chr1:216421872 [GRCh38]
Chr1:216595214 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2167+18G>A single nucleotide variant not provided [RCV001488486] Chr1:216250885 [GRCh38]
Chr1:216424227 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12225A>G (p.Glu4075=) single nucleotide variant not provided [RCV001491194] Chr1:215680218 [GRCh38]
Chr1:215853560 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12894T>C (p.Tyr4298=) single nucleotide variant not provided [RCV001491223] Chr1:215675017 [GRCh38]
Chr1:215848359 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-10C>G single nucleotide variant not provided [RCV001503398] Chr1:215743345 [GRCh38]
Chr1:215916687 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4005T>G (p.Tyr1335Ter) single nucleotide variant not provided [RCV001387845] Chr1:216198391 [GRCh38]
Chr1:216371733 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3993A>G (p.Pro1331=) single nucleotide variant not provided [RCV001441844] Chr1:216198403 [GRCh38]
Chr1:216371745 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12669T>C (p.Phe4223=) single nucleotide variant not provided [RCV001441868] Chr1:215675242 [GRCh38]
Chr1:215848584 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2457C>A (p.Pro819=) single nucleotide variant not provided [RCV001499372] Chr1:216246937 [GRCh38]
Chr1:216420279 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14142A>G (p.Ala4714=) single nucleotide variant not provided [RCV001465371] Chr1:215650793 [GRCh38]
Chr1:215824135 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12936T>C (p.Asp4312=) single nucleotide variant not provided [RCV001467805] Chr1:215674975 [GRCh38]
Chr1:215848317 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10741-10A>G single nucleotide variant not provided [RCV001485182] Chr1:215780051 [GRCh38]
Chr1:215953393 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14061C>T (p.Val4687=) single nucleotide variant not provided [RCV001471410] Chr1:215671044 [GRCh38]
Chr1:215844386 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7224T>C (p.Tyr2408=) single nucleotide variant not provided [RCV001475583] Chr1:215934692 [GRCh38]
Chr1:216108034 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.663A>G (p.Thr221=) single nucleotide variant not provided [RCV001496890] Chr1:216365074 [GRCh38]
Chr1:216538416 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1944T>C (p.Thr648=) single nucleotide variant not provided [RCV001476755] Chr1:216289307 [GRCh38]
Chr1:216462649 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14052C>T (p.Ser4684=) single nucleotide variant not provided [RCV001452263] Chr1:215671053 [GRCh38]
Chr1:215844395 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3157+10C>T single nucleotide variant not provided [RCV001480300] Chr1:216217377 [GRCh38]
Chr1:216390719 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11766C>A (p.Ala3922=) single nucleotide variant not provided [RCV001459347] Chr1:215728330 [GRCh38]
Chr1:215901672 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5550T>C (p.Tyr1850=) single nucleotide variant not provided [RCV001452199] Chr1:216078111 [GRCh38]
Chr1:216251453 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216166362)_(216166509_?)del deletion not provided [RCV001387916] Chr1:216166362..216166509 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4521A>T (p.Ser1507=) single nucleotide variant not provided [RCV001439274] Chr1:216175358 [GRCh38]
Chr1:216348700 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7998G>A (p.Lys2666=) single nucleotide variant not provided [RCV001403000] Chr1:215888651 [GRCh38]
Chr1:216061993 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9597C>T (p.Asn3199=) single nucleotide variant not provided [RCV001428573] Chr1:215813878 [GRCh38]
Chr1:215987220 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8154C>T (p.Thr2718=) single nucleotide variant not provided [RCV001428599] Chr1:215888495 [GRCh38]
Chr1:216061837 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3705A>C (p.Thr1235=) single nucleotide variant not provided [RCV001441934] Chr1:216199733 [GRCh38]
Chr1:216373075 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2172T>C (p.Leu724=) single nucleotide variant not provided [RCV001405496] Chr1:216247222 [GRCh38]
Chr1:216420564 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6164-9C>T single nucleotide variant not provided [RCV001454824] Chr1:216046601 [GRCh38]
Chr1:216219943 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13140A>C (p.Thr4380=) single nucleotide variant not provided [RCV001462032] Chr1:215674771 [GRCh38]
Chr1:215848113 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15237G>A (p.Leu5079=) single nucleotide variant not provided [RCV001502963] Chr1:215634519 [GRCh38]
Chr1:215807861 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1338A>G (p.Pro446=) single nucleotide variant not provided [RCV001502974] Chr1:216323686 [GRCh38]
Chr1:216497028 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12333T>C (p.Ser4111=) single nucleotide variant not provided [RCV001465512] Chr1:215675578 [GRCh38]
Chr1:215848920 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13645T>C (p.Leu4549=) single nucleotide variant not provided [RCV001465583] Chr1:215674266 [GRCh38]
Chr1:215847608 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15600C>T (p.Thr5200=) single nucleotide variant not provided [RCV001471661] Chr1:215625790 [GRCh38]
Chr1:215799132 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10383C>T (p.Tyr3461=) single nucleotide variant not provided [RCV001471734] Chr1:215786674 [GRCh38]
Chr1:215960016 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13299G>T (p.Val4433=) single nucleotide variant not provided [RCV001474327] Chr1:215674612 [GRCh38]
Chr1:215847954 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6834A>G (p.Leu2278=) single nucleotide variant not provided [RCV001491574] Chr1:215970748 [GRCh38]
Chr1:216144090 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10773G>A (p.Glu3591=) single nucleotide variant not provided [RCV001492827] Chr1:215780009 [GRCh38]
Chr1:215953351 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2761C>T (p.Leu921=) single nucleotide variant not provided [RCV001475659] Chr1:216246633 [GRCh38]
Chr1:216419975 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10308G>A (p.Gly3436=) single nucleotide variant not provided [RCV001452542] Chr1:215786749 [GRCh38]
Chr1:215960091 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9740-7T>C single nucleotide variant not provided [RCV001459827] Chr1:215799132 [GRCh38]
Chr1:215972474 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4125G>A (p.Ser1375=) single nucleotide variant not provided [RCV001463204] Chr1:216196679 [GRCh38]
Chr1:216370021 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4720T>C (p.Leu1574=) single nucleotide variant not provided [RCV001469452] Chr1:216097121 [GRCh38]
Chr1:216270463 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.849-2A>G single nucleotide variant Usher syndrome type 2A [RCV001831362]|not provided [RCV001378991] Chr1:216325601 [GRCh38]
Chr1:216498943 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2478C>A (p.Cys826Ter) single nucleotide variant not provided [RCV001390514] Chr1:216246916 [GRCh38]
Chr1:216420258 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3687A>G (p.Leu1229=) single nucleotide variant not provided [RCV001499809] Chr1:216199751 [GRCh38]
Chr1:216373093 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1977A>G (p.Gly659=) single nucleotide variant not provided [RCV001455662] Chr1:216251093 [GRCh38]
Chr1:216424435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4233T>A (p.Ile1411=) single nucleotide variant not provided [RCV001482956] Chr1:216196571 [GRCh38]
Chr1:216369913 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14344-9C>T single nucleotide variant not provided [RCV001505560] Chr1:215648775 [GRCh38]
Chr1:215822117 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6150T>G (p.Ser2050=) single nucleotide variant not provided [RCV001492897] Chr1:216048547 [GRCh38]
Chr1:216221889 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11961G>A (p.Lys3987=) single nucleotide variant not provided [RCV001492911] Chr1:215728135 [GRCh38]
Chr1:215901477 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8247C>A (p.Ile2749=) single nucleotide variant not provided [RCV001497435] Chr1:215879075 [GRCh38]
Chr1:216052417 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6009C>T (p.Pro2003=) single nucleotide variant not provided [RCV001480765] Chr1:216070141 [GRCh38]
Chr1:216243483 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3142T>C (p.Leu1048=) single nucleotide variant not provided [RCV001466527] Chr1:216217402 [GRCh38]
Chr1:216390744 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13011G>T (p.Thr4337=) single nucleotide variant not provided [RCV001504227] Chr1:215674900 [GRCh38]
Chr1:215848242 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8178G>A (p.Gly2726=) single nucleotide variant not provided [RCV001452637] Chr1:215888471 [GRCh38]
Chr1:216061813 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12067-5T>A single nucleotide variant not provided [RCV001439689] Chr1:215680381 [GRCh38]
Chr1:215853723 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15345C>A (p.Ile5115=) single nucleotide variant not provided [RCV001439699] Chr1:215628988 [GRCh38]
Chr1:215802330 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12303C>T (p.Asn4101=) single nucleotide variant not provided [RCV001442311] Chr1:215675608 [GRCh38]
Chr1:215848950 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216221876)_(216270555_?)del deletion not provided [RCV001390579] Chr1:216221876..216270555 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216464357)_216538407del deletion not provided [RCV001390582]   pathogenic
NC_000001.10:g.(?_216039721)_(216064540_?)del deletion not provided [RCV001390583] Chr1:216039721..216064540 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9435C>T (p.Leu3145=) single nucleotide variant not provided [RCV001415550] Chr1:215817132 [GRCh38]
Chr1:215990474 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7908T>A (p.Thr2636=) single nucleotide variant not provided [RCV001483156] Chr1:215888741 [GRCh38]
Chr1:216062083 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4347A>G (p.Ser1449=) single nucleotide variant not provided [RCV001468264] Chr1:216190272 [GRCh38]
Chr1:216363614 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15369C>T (p.Val5123=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451759]|Usher syndrome type 2A [RCV003451758]|not provided [RCV001489290] Chr1:215628964 [GRCh38]
Chr1:215802306 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12513T>A (p.Val4171=) single nucleotide variant not provided [RCV001472062] Chr1:215675398 [GRCh38]
Chr1:215848740 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.981A>T (p.Thr327=) single nucleotide variant not provided [RCV001491674] Chr1:216325467 [GRCh38]
Chr1:216498809 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15555G>A (p.Lys5185=) single nucleotide variant not provided [RCV001475749] Chr1:215625835 [GRCh38]
Chr1:215799177 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2993+9T>G single nucleotide variant not provided [RCV001475773] Chr1:216231944 [GRCh38]
Chr1:216405286 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10713G>A (p.Thr3571=) single nucleotide variant not provided [RCV001460162] Chr1:215782069 [GRCh38]
Chr1:215955411 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2718G>A (p.Gly906=) single nucleotide variant not provided [RCV001456264] Chr1:216246676 [GRCh38]
Chr1:216420018 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14010C>T (p.Tyr4670=) single nucleotide variant not provided [RCV001501194] Chr1:215671095 [GRCh38]
Chr1:215844437 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10182+9T>C single nucleotide variant not provided [RCV001504272] Chr1:215790050 [GRCh38]
Chr1:215963392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1671T>C (p.Asn557=) single nucleotide variant not provided [RCV001504295] Chr1:216292344 [GRCh38]
Chr1:216465686 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12018C>T (p.Pro4006=) single nucleotide variant not provided [RCV001486919] Chr1:215728078 [GRCh38]
Chr1:215901420 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14502T>C (p.Ser4834=) single nucleotide variant not provided [RCV001469879] Chr1:215648608 [GRCh38]
Chr1:215821950 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6630T>C (p.Pro2210=) single nucleotide variant not provided [RCV001415512] Chr1:215998914 [GRCh38]
Chr1:216172256 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14874C>T (p.Asn4958=) single nucleotide variant not provided [RCV001434225] Chr1:215640652 [GRCh38]
Chr1:215813994 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14691G>A (p.Gly4897=) single nucleotide variant not provided [RCV001437353] Chr1:215647622 [GRCh38]
Chr1:215820964 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) single nucleotide variant Usher syndrome type 2 [RCV001692374]|Usher syndrome type 2A [RCV003450054]|not provided [RCV001381446] Chr1:215758749 [GRCh38]
Chr1:215932091 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13943del (p.Gly4648fs) deletion not provided [RCV001390712] Chr1:215671162 [GRCh38]
Chr1:215844504 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10829G>A (p.Trp3610Ter) single nucleotide variant not provided [RCV001390732] Chr1:215779953 [GRCh38]
Chr1:215953295 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9258+8C>T single nucleotide variant not provided [RCV001466097] Chr1:215844286 [GRCh38]
Chr1:216017628 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.444T>C (p.Phe148=) single nucleotide variant not provided [RCV001492986] Chr1:216421893 [GRCh38]
Chr1:216595235 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2810-10T>G single nucleotide variant not provided [RCV001475844] Chr1:216232146 [GRCh38]
Chr1:216405488 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1344C>A (p.Ser448=) single nucleotide variant not provided [RCV001481079] Chr1:216323680 [GRCh38]
Chr1:216497022 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14907A>G (p.Gly4969=) single nucleotide variant not provided [RCV001481195] Chr1:215640619 [GRCh38]
Chr1:215813961 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2289T>C (p.Ser763=) single nucleotide variant not provided [RCV001470290] Chr1:216247105 [GRCh38]
Chr1:216420447 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10062G>A (p.Val3354=) single nucleotide variant not provided [RCV001470316] Chr1:215790179 [GRCh38]
Chr1:215963521 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV001376286]|not provided [RCV001380848] Chr1:216078131 [GRCh38]
Chr1:216251473 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5776+2T>G single nucleotide variant not provided [RCV001386354] Chr1:216073095 [GRCh38]
Chr1:216246437 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7300+9A>G single nucleotide variant not provided [RCV001406119] Chr1:215934607 [GRCh38]
Chr1:216107949 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9876G>A (p.Gln3292=) single nucleotide variant not provided [RCV001406208] Chr1:215798989 [GRCh38]
Chr1:215972331 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13491T>C (p.Phe4497=) single nucleotide variant not provided [RCV001423662] Chr1:215674420 [GRCh38]
Chr1:215847762 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9371+9T>A single nucleotide variant not provided [RCV001393277] Chr1:215837982 [GRCh38]
Chr1:216011324 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4875G>T (p.Gly1625=) single nucleotide variant not provided [RCV001456119] Chr1:216089023 [GRCh38]
Chr1:216262365 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7824T>C (p.Cys2608=) single nucleotide variant not provided [RCV001485816] Chr1:215888825 [GRCh38]
Chr1:216062167 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8991C>T (p.Ile2997=) single nucleotide variant not provided [RCV001493182] Chr1:215845888 [GRCh38]
Chr1:216019230 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9225A>G (p.Arg3075=) single nucleotide variant not provided [RCV001493216] Chr1:215844327 [GRCh38]
Chr1:216017669 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.825A>G (p.Leu275=) single nucleotide variant not provided [RCV001460909] Chr1:216327614 [GRCh38]
Chr1:216500956 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7098T>G (p.Thr2366=) single nucleotide variant not provided [RCV001467271] Chr1:215965339 [GRCh38]
Chr1:216138681 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+2T>C single nucleotide variant not provided [RCV001376982] Chr1:215798905 [GRCh38]
Chr1:215972247 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.357C>T (p.Asn119=) single nucleotide variant not provided [RCV001401208] Chr1:216421980 [GRCh38]
Chr1:216595322 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6102T>C (p.Ala2034=) single nucleotide variant not provided [RCV001426789] Chr1:216048595 [GRCh38]
Chr1:216221937 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15603C>T (p.His5201=) single nucleotide variant not provided [RCV001426822] Chr1:215625787 [GRCh38]
Chr1:215799129 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14316C>T (p.Ser4772=) single nucleotide variant not provided [RCV001442783] Chr1:215650619 [GRCh38]
Chr1:215823961 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2253C>T (p.Leu751=) single nucleotide variant not provided [RCV001442787] Chr1:216247141 [GRCh38]
Chr1:216420483 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.741A>G (p.Thr247=) single nucleotide variant not provided [RCV001434721] Chr1:216364996 [GRCh38]
Chr1:216538338 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4530A>G (p.Pro1510=) single nucleotide variant not provided [RCV001398256] Chr1:216175349 [GRCh38]
Chr1:216348691 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216219884)_216227803del deletion not provided [RCV001377016]   likely pathogenic
NM_206933.4(USH2A):c.3850del (p.Arg1284fs) deletion not provided [RCV001383936] Chr1:216198546 [GRCh38]
Chr1:216371888 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7077A>G (p.Leu2359=) single nucleotide variant not provided [RCV001480772] Chr1:215965360 [GRCh38]
Chr1:216138702 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4287C>T (p.Tyr1429=) single nucleotide variant not provided [RCV001485955] Chr1:216190332 [GRCh38]
Chr1:216363674 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-24CT[7] microsatellite Retinitis pigmentosa 39 [RCV003446775]|Usher syndrome type 2A [RCV003446774]|not provided [RCV001489695] Chr1:215743342..215743345 [GRCh38]
Chr1:215916684..215916687 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15053-6T>C single nucleotide variant not provided [RCV001491891] Chr1:215634709 [GRCh38]
Chr1:215808051 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8538G>A (p.Lys2846=) single nucleotide variant not provided [RCV001493345] Chr1:215878784 [GRCh38]
Chr1:216052126 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) single nucleotide variant Usher syndrome type 2A [RCV002246368]|not provided [RCV001383977] Chr1:216073136 [GRCh38]
Chr1:216246478 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7300+1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003462944]|Usher syndrome [RCV002222707]|Usher syndrome type 2A [RCV003446733]|not provided [RCV001377091] Chr1:215934615 [GRCh38]
Chr1:216107957 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10089T>C (p.Leu3363=) single nucleotide variant not provided [RCV001423974] Chr1:215790152 [GRCh38]
Chr1:215963494 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12472C>T (p.Gln4158Ter) single nucleotide variant not provided [RCV001384115] Chr1:215675439 [GRCh38]
Chr1:215848781 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13576C>A (p.Arg4526=) single nucleotide variant not provided [RCV001419139] Chr1:215674335 [GRCh38]
Chr1:215847677 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4987+10G>A single nucleotide variant not provided [RCV001427100] Chr1:216086709 [GRCh38]
Chr1:216260051 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10680T>C (p.Phe3560=) single nucleotide variant not provided [RCV001427106] Chr1:215782102 [GRCh38]
Chr1:215955444 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8478A>G (p.Pro2826=) single nucleotide variant not provided [RCV001403949] Chr1:215878844 [GRCh38]
Chr1:216052186 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13107C>T (p.Ala4369=) single nucleotide variant not provided [RCV001404026] Chr1:215674804 [GRCh38]
Chr1:215848146 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2628T>A (p.Gly876=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451749]|Usher syndrome type 2A [RCV003451748]|not provided [RCV001486168] Chr1:216246766 [GRCh38]
Chr1:216420108 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14518C>T (p.Leu4840=) single nucleotide variant not provided [RCV001492006] Chr1:215648592 [GRCh38]
Chr1:215821934 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5719C>T (p.Leu1907=) single nucleotide variant not provided [RCV001481638] Chr1:216073154 [GRCh38]
Chr1:216246496 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2454G>A (p.Lys818=) single nucleotide variant not provided [RCV001457114] Chr1:216246940 [GRCh38]
Chr1:216420282 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6294T>C (p.Tyr2098=) single nucleotide variant not provided [RCV001457151] Chr1:216046462 [GRCh38]
Chr1:216219804 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8789A>G (p.Asn2930Ser) single nucleotide variant not provided [RCV001505056] Chr1:215867063 [GRCh38]
Chr1:216040405 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1328+37_1328+40del deletion Retinitis pigmentosa 39 [RCV003446804]|Usher syndrome type 2A [RCV003446803]|not provided [RCV001523594] Chr1:216324128..216324131 [GRCh38]
Chr1:216497470..216497473 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.652-80T>C single nucleotide variant Usher syndrome type 2A [RCV001533668]|not provided [RCV001523595] Chr1:216365165 [GRCh38]
Chr1:216538507 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9303C>G (p.Thr3101=) single nucleotide variant not provided [RCV001488555] Chr1:215838059 [GRCh38]
Chr1:216011401 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.330A>G (p.Thr110=) single nucleotide variant not provided [RCV001435131] Chr1:216422007 [GRCh38]
Chr1:216595349 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3801G>T (p.Ala1267=) single nucleotide variant not provided [RCV001416435] Chr1:216199637 [GRCh38]
Chr1:216372979 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8642C>G (p.Ser2881Ter) single nucleotide variant not provided [RCV001381935] Chr1:215877797 [GRCh38]
Chr1:216051139 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13481A>G (p.Tyr4494Cys) single nucleotide variant not provided [RCV001384301] Chr1:215674430 [GRCh38]
Chr1:215847772 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9759T>C (p.Asp3253=) single nucleotide variant not provided [RCV001416451] Chr1:215799106 [GRCh38]
Chr1:215972448 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15381G>A (p.Pro5127=) single nucleotide variant not provided [RCV001486346] Chr1:215628952 [GRCh38]
Chr1:215802294 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6306G>A (p.Glu2102=) single nucleotide variant not provided [RCV001493654] Chr1:216046450 [GRCh38]
Chr1:216219792 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14256G>A (p.Val4752=) single nucleotide variant not provided [RCV001502111] Chr1:215650679 [GRCh38]
Chr1:215824021 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8514G>T (p.Val2838=) single nucleotide variant not provided [RCV001467811] Chr1:215878808 [GRCh38]
Chr1:216052150 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644+9T>C single nucleotide variant not provided [RCV001467836] Chr1:216321874 [GRCh38]
Chr1:216495216 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2769G>A (p.Val923=) single nucleotide variant not provided [RCV001471664] Chr1:216246625 [GRCh38]
Chr1:216419967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10982del (p.Cys3661fs) deletion not provided [RCV001389055] Chr1:215766746 [GRCh38]
Chr1:215940088 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8435_8438del (p.Thr2812fs) microsatellite not provided [RCV001389151] Chr1:215878884..215878887 [GRCh38]
Chr1:216052226..216052229 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14582+15A>G single nucleotide variant not provided [RCV001404359] Chr1:215648513 [GRCh38]
Chr1:215821855 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7593C>T (p.Asp2531=) single nucleotide variant not provided [RCV001453111] Chr1:215900076 [GRCh38]
Chr1:216073418 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8016G>C (p.Leu2672=) single nucleotide variant not provided [RCV001453187] Chr1:215888633 [GRCh38]
Chr1:216061975 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9056-4C>T single nucleotide variant not provided [RCV001477827] Chr1:215844500 [GRCh38]
Chr1:216017842 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3429A>G (p.Thr1143=) single nucleotide variant not provided [RCV001477884] Chr1:216200009 [GRCh38]
Chr1:216373351 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10941T>C (p.Gly3647=) single nucleotide variant not provided [RCV001424556] Chr1:215766787 [GRCh38]
Chr1:215940129 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13011G>A (p.Thr4337=) single nucleotide variant not provided [RCV001426139] Chr1:215674900 [GRCh38]
Chr1:215848242 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11709C>G (p.Tyr3903Ter) single nucleotide variant not provided [RCV001387977] Chr1:215741377 [GRCh38]
Chr1:215914719 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12096G>A (p.Gly4032=) single nucleotide variant not provided [RCV001403071] Chr1:215680347 [GRCh38]
Chr1:215853689 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5742G>A (p.Gln1914=) single nucleotide variant not provided [RCV001404388] Chr1:216073131 [GRCh38]
Chr1:216246473 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13512G>A (p.Glu4504=) single nucleotide variant not provided [RCV001406630] Chr1:215674399 [GRCh38]
Chr1:215847741 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1197T>C (p.Ile399=) single nucleotide variant not provided [RCV001443246] Chr1:216324299 [GRCh38]
Chr1:216497641 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11548+9C>G single nucleotide variant not provided [RCV001443301] Chr1:215743168 [GRCh38]
Chr1:215916510 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7437C>T (p.Thr2479=) single nucleotide variant not provided [RCV001445858] Chr1:215900769 [GRCh38]
Chr1:216074111 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5874A>G (p.Pro1958=) single nucleotide variant not provided [RCV001445965] Chr1:216070276 [GRCh38]
Chr1:216243618 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5298+7G>A single nucleotide variant not provided [RCV001394335] Chr1:216083449 [GRCh38]
Chr1:216256791 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14904C>T (p.Asp4968=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451711]|Usher syndrome type 2A [RCV003451710]|not provided [RCV001399368] Chr1:215640622 [GRCh38]
Chr1:215813964 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15450C>T (p.Asp5150=) single nucleotide variant not provided [RCV001420047] Chr1:215628883 [GRCh38]
Chr1:215802225 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9693A>G (p.Gln3231=) single nucleotide variant not provided [RCV001402196] Chr1:215813782 [GRCh38]
Chr1:215987124 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3862G>T (p.Glu1288Ter) single nucleotide variant not provided [RCV001389328] Chr1:216198534 [GRCh38]
Chr1:216371876 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3705A>G (p.Thr1235=) single nucleotide variant not provided [RCV001432544] Chr1:216199733 [GRCh38]
Chr1:216373075 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1893T>C (p.Asp631=) single nucleotide variant not provided [RCV001432618] Chr1:216289358 [GRCh38]
Chr1:216462700 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15018G>A (p.Thr5006=) single nucleotide variant not provided [RCV001409609] Chr1:215639189 [GRCh38]
Chr1:215812531 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10398C>T (p.Leu3466=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451699]|Usher syndrome type 2A [RCV003451698]|not provided [RCV001394196] Chr1:215782925 [GRCh38]
Chr1:215956267 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7650G>A (p.Leu2550=) single nucleotide variant not provided [RCV001400760] Chr1:215888999 [GRCh38]
Chr1:216062341 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8169A>G (p.Arg2723=) single nucleotide variant not provided [RCV001427669] Chr1:215888480 [GRCh38]
Chr1:216061822 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_215987078)_(216019375_?)del deletion not provided [RCV001380219] Chr1:215987078..216019375 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215901362)_(215940140_?)del deletion not provided [RCV001380221] Chr1:215901362..215940140 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215844314)_(215853718_?)del deletion not provided [RCV001380222] Chr1:215844314..215853718 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6153T>C (p.Thr2051=) single nucleotide variant not provided [RCV001403100] Chr1:216048544 [GRCh38]
Chr1:216221886 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7257C>A (p.Gly2419=) single nucleotide variant not provided [RCV001404428] Chr1:215934659 [GRCh38]
Chr1:216108001 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1215T>C (p.Asn405=) single nucleotide variant Usher syndrome type 2A [RCV001826203]|not provided [RCV001404472] Chr1:216324281 [GRCh38]
Chr1:216497623 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3729C>G (p.Pro1243=) single nucleotide variant not provided [RCV001448652] Chr1:216199709 [GRCh38]
Chr1:216373051 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15201C>T (p.Ile5067=) single nucleotide variant not provided [RCV001417327] Chr1:215634555 [GRCh38]
Chr1:215807897 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13611T>C (p.Pro4537=) single nucleotide variant not provided [RCV001430355] Chr1:215674300 [GRCh38]
Chr1:215847642 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3762C>A (p.Ile1254=) single nucleotide variant Usher syndrome type 2A [RCV001832568]|not provided [RCV001443782] Chr1:216199676 [GRCh38]
Chr1:216373018 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1593C>T (p.Ser531=) single nucleotide variant not provided [RCV001443794] Chr1:216321934 [GRCh38]
Chr1:216495276 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5061T>C (p.Ile1687=) single nucleotide variant Usher syndrome type 2A [RCV001826264]|not provided [RCV001443818] Chr1:216084804 [GRCh38]
Chr1:216258146 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4602T>G (p.Thr1534=) single nucleotide variant not provided [RCV001409628] Chr1:216175277 [GRCh38]
Chr1:216348619 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6153T>A (p.Thr2051=) single nucleotide variant not provided [RCV001409633] Chr1:216048544 [GRCh38]
Chr1:216221886 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NM_206933.4(USH2A):c.6139T>C (p.Leu2047=) single nucleotide variant not provided [RCV001446365] Chr1:216048558 [GRCh38]
Chr1:216221900 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15606G>C (p.Leu5202=) single nucleotide variant not provided [RCV001409722] Chr1:215625784 [GRCh38]
Chr1:215799126 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6325+7C>A single nucleotide variant not provided [RCV001446404] Chr1:216046424 [GRCh38]
Chr1:216219766 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12408C>T (p.Thr4136=) single nucleotide variant not provided [RCV001446405] Chr1:215675503 [GRCh38]
Chr1:215848845 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13714C>T (p.Leu4572=) single nucleotide variant not provided [RCV001446406] Chr1:215674197 [GRCh38]
Chr1:215847539 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5904A>T (p.Gly1968=) single nucleotide variant not provided [RCV001448826] Chr1:216070246 [GRCh38]
Chr1:216243588 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1572C>T (p.Ala524=) single nucleotide variant not provided [RCV001402129] Chr1:216321955 [GRCh38]
Chr1:216495297 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14190C>A (p.Thr4730=) single nucleotide variant not provided [RCV001438561] Chr1:215650745 [GRCh38]
Chr1:215824087 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13742del (p.His4581fs) deletion Retinitis pigmentosa 39 [RCV003463028]|not provided [RCV001389356] Chr1:215674169 [GRCh38]
Chr1:215847511 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8442dup (p.Thr2815fs) duplication not provided [RCV001389358] Chr1:215878879..215878880 [GRCh38]
Chr1:216052221..216052222 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10939+2T>C single nucleotide variant not provided [RCV001378228] Chr1:215779841 [GRCh38]
Chr1:215953183 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.78T>G (p.Ala26=) single nucleotide variant not provided [RCV001430382] Chr1:216422259 [GRCh38]
Chr1:216595601 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4788T>C (p.Asn1596=) single nucleotide variant not provided [RCV001404889] Chr1:216089110 [GRCh38]
Chr1:216262452 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11310A>G (p.Ser3770=) single nucleotide variant not provided [RCV001415546] Chr1:215758674 [GRCh38]
Chr1:215932016 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6429A>G (p.Pro2143=) single nucleotide variant not provided [RCV001420075] Chr1:216000459 [GRCh38]
Chr1:216173801 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11904T>C (p.Phe3968=) single nucleotide variant not provided [RCV001428857] Chr1:215728192 [GRCh38]
Chr1:215901534 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-6C>T single nucleotide variant not provided [RCV001428881] Chr1:216247232 [GRCh38]
Chr1:216420574 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4370C>A (p.Ser1457Ter) single nucleotide variant not provided [RCV001389453] Chr1:216190249 [GRCh38]
Chr1:216363591 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6806-10A>G single nucleotide variant not provided [RCV001404618] Chr1:215970786 [GRCh38]
Chr1:216144128 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11460C>A (p.Ala3820=) single nucleotide variant not provided [RCV001407130] Chr1:215743265 [GRCh38]
Chr1:215916607 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-7C>A single nucleotide variant not provided [RCV001432783] Chr1:216190374 [GRCh38]
Chr1:216363716 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12165T>C (p.Pro4055=) single nucleotide variant not provided [RCV001409756] Chr1:215680278 [GRCh38]
Chr1:215853620 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8846-8G>A single nucleotide variant not provided [RCV001409771] Chr1:215846041 [GRCh38]
Chr1:216019383 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg) single nucleotide variant not provided [RCV001448931] Chr1:215671166 [GRCh38]
Chr1:215844508 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9740-4A>C single nucleotide variant not provided [RCV001448965] Chr1:215799129 [GRCh38]
Chr1:215972471 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11832C>T (p.Ala3944=) single nucleotide variant not provided [RCV001449023] Chr1:215728264 [GRCh38]
Chr1:215901606 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4014A>G (p.Arg1338=) single nucleotide variant not provided [RCV001430673] Chr1:216198382 [GRCh38]
Chr1:216371724 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8019G>A (p.Val2673=) single nucleotide variant not provided [RCV001444071] Chr1:215888630 [GRCh38]
Chr1:216061972 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13779A>G (p.Ser4593=) single nucleotide variant not provided [RCV001444101] Chr1:215674132 [GRCh38]
Chr1:215847474 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13650G>A (p.Val4550=) single nucleotide variant not provided [RCV001444147] Chr1:215674261 [GRCh38]
Chr1:215847603 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10182+7G>C single nucleotide variant not provided [RCV001423518] Chr1:215790052 [GRCh38]
Chr1:215963394 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10116T>A (p.Asn3372Lys) single nucleotide variant Inborn genetic diseases [RCV003169988]|not provided [RCV001399351] Chr1:215790125 [GRCh38]
Chr1:215963467 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8535C>G (p.Ser2845=) single nucleotide variant not provided [RCV001417179] Chr1:215878787 [GRCh38]
Chr1:216052129 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13897T>C (p.Leu4633=) single nucleotide variant not provided [RCV001437441] Chr1:215671208 [GRCh38]
Chr1:215844550 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3453C>T (p.Asn1151=) single nucleotide variant not provided [RCV001430325] Chr1:216199985 [GRCh38]
Chr1:216373327 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13886_13902del (p.Glu4629fs) deletion not provided [RCV001385604] Chr1:215671203..215671219 [GRCh38]
Chr1:215844545..215844561 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.822A>G (p.Arg274=) single nucleotide variant not provided [RCV001446782] Chr1:216327617 [GRCh38]
Chr1:216500959 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10585+10T>G single nucleotide variant not provided [RCV001410150] Chr1:215782728 [GRCh38]
Chr1:215956070 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13212G>C (p.Leu4404=) single nucleotide variant not provided [RCV001410154] Chr1:215674699 [GRCh38]
Chr1:215848041 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1841-4G>A single nucleotide variant not provided [RCV001446866] Chr1:216289414 [GRCh38]
Chr1:216462756 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.648G>T (p.Val216=) single nucleotide variant not provided [RCV001415569] Chr1:216418517 [GRCh38]
Chr1:216591859 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5643C>T (p.Ser1881=) single nucleotide variant not provided [RCV001435895] Chr1:216073230 [GRCh38]
Chr1:216246572 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.600A>G (p.Val200=) single nucleotide variant not provided [RCV001425004] Chr1:216418565 [GRCh38]
Chr1:216591907 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5485C>T (p.Gln1829Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003463014]|not provided [RCV001386383] Chr1:216078176 [GRCh38]
Chr1:216251518 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3096T>A (p.Cys1032Ter) single nucleotide variant not provided [RCV001386401] Chr1:216217448 [GRCh38]
Chr1:216390790 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4470T>C (p.Pro1490=) single nucleotide variant not provided [RCV001403479] Chr1:216175409 [GRCh38]
Chr1:216348751 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13650G>T (p.Val4550=) single nucleotide variant not provided [RCV001444103] Chr1:215674261 [GRCh38]
Chr1:215847603 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7392T>C (p.Pro2464=) single nucleotide variant not provided [RCV001407510] Chr1:215900814 [GRCh38]
Chr1:216074156 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6049+9A>C single nucleotide variant not provided [RCV001444186] Chr1:216070092 [GRCh38]
Chr1:216243434 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10785A>G (p.Pro3595=) single nucleotide variant not provided [RCV001444190] Chr1:215779997 [GRCh38]
Chr1:215953339 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7836A>G (p.Pro2612=) single nucleotide variant not provided [RCV001410104] Chr1:215888813 [GRCh38]
Chr1:216062155 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13020A>G (p.Gly4340=) single nucleotide variant not provided [RCV001449346] Chr1:215674891 [GRCh38]
Chr1:215848233 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6750C>T (p.His2250=) single nucleotide variant not provided [RCV001400290] Chr1:215993075 [GRCh38]
Chr1:216166417 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4251+9A>G single nucleotide variant not provided [RCV001444289] Chr1:216196544 [GRCh38]
Chr1:216369886 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13644C>A (p.Ile4548=) single nucleotide variant not provided [RCV001444304] Chr1:215674267 [GRCh38]
Chr1:215847609 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5607A>G (p.Thr1869=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451721]|Usher syndrome type 2A [RCV003451720]|not provided [RCV001407802] Chr1:216073266 [GRCh38]
Chr1:216246608 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-53C>T single nucleotide variant Usher syndrome type 2A [RCV001532782]|not provided [RCV001619940] Chr1:215743388 [GRCh38]
Chr1:215916730 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10388-27T>C single nucleotide variant Usher syndrome type 2A [RCV001532787]|not provided [RCV001712965] Chr1:215782962 [GRCh38]
Chr1:215956304 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3381C>T (p.Thr1127=) single nucleotide variant not provided [RCV001436059] Chr1:216200057 [GRCh38]
Chr1:216373399 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11231+1G>C single nucleotide variant not provided [RCV001378130] Chr1:215759659 [GRCh38]
Chr1:215933001 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2865A>G (p.Thr955=) single nucleotide variant not provided [RCV001436102] Chr1:216232081 [GRCh38]
Chr1:216405423 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6435C>T (p.His2145=) single nucleotide variant not provided [RCV001418894] Chr1:216000453 [GRCh38]
Chr1:216173795 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9675C>T (p.Gly3225=) single nucleotide variant not provided [RCV001437562] Chr1:215813800 [GRCh38]
Chr1:215987142 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8993_8994del (p.Ser2998fs) microsatellite not provided [RCV001380525] Chr1:215845885..215845886 [GRCh38]
Chr1:216019227..216019228 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8871T>C (p.Val2957=) single nucleotide variant not provided [RCV001430690] Chr1:215846008 [GRCh38]
Chr1:216019350 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9438A>G (p.Leu3146=) single nucleotide variant not provided [RCV001407585] Chr1:215817129 [GRCh38]
Chr1:215990471 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14718G>A (p.Lys4906=) single nucleotide variant not provided [RCV001407588] Chr1:215647595 [GRCh38]
Chr1:215820937 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4752T>C (p.Asp1584=) single nucleotide variant not provided [RCV001444266] Chr1:216097089 [GRCh38]
Chr1:216270431 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2436A>G (p.Thr812=) single nucleotide variant not provided [RCV001449446] Chr1:216246958 [GRCh38]
Chr1:216420300 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4542C>T (p.Thr1514=) single nucleotide variant not provided [RCV001449459] Chr1:216175337 [GRCh38]
Chr1:216348679 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13215C>T (p.Cys4405=) single nucleotide variant not provided [RCV001418215] Chr1:215674696 [GRCh38]
Chr1:215848038 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216405285)_(216405488_?)del deletion not provided [RCV001387911] Chr1:216405285..216405488 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216363555)_(216363719_?)del deletion not provided [RCV001387912] Chr1:216363555..216363719 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216348580)_(216348824_?)del deletion not provided [RCV001387913] Chr1:216348580..216348824 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11850A>G (p.Ser3950=) single nucleotide variant not provided [RCV001428568] Chr1:215728246 [GRCh38]
Chr1:215901588 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1551-9T>C single nucleotide variant not provided [RCV001428589] Chr1:216321985 [GRCh38]
Chr1:216495327 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13113A>G (p.Gln4371=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451734]|Usher syndrome type 2A [RCV003451733]|not provided [RCV001431104] Chr1:215674798 [GRCh38]
Chr1:215848140 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13993G>T (p.Gly4665Ter) single nucleotide variant not provided [RCV001390319] Chr1:215671112 [GRCh38]
Chr1:215844454 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3675C>T (p.Ser1225=) single nucleotide variant not provided [RCV001407941] Chr1:216199763 [GRCh38]
Chr1:216373105 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10545T>C (p.Asp3515=) single nucleotide variant not provided [RCV001410526] Chr1:215782778 [GRCh38]
Chr1:215956120 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10932G>A (p.Thr3644=) single nucleotide variant not provided [RCV001393290] Chr1:215779850 [GRCh38]
Chr1:215953192 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10096_10097del (p.Lys3366fs) deletion not provided [RCV001383796] Chr1:215790144..215790145 [GRCh38]
Chr1:215963486..215963487 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216363565)_(216373463_?)del deletion not provided [RCV001379539] Chr1:216363565..216373463 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12621C>T (p.Ala4207=) single nucleotide variant not provided [RCV001429237] Chr1:215675290 [GRCh38]
Chr1:215848632 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5529A>T (p.Pro1843=) single nucleotide variant not provided [RCV001405306] Chr1:216078132 [GRCh38]
Chr1:216251474 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9183C>A (p.Leu3061=) single nucleotide variant not provided [RCV001431182] Chr1:215844369 [GRCh38]
Chr1:216017711 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.292dup (p.Thr98fs) duplication not provided [RCV001390405] Chr1:216422044..216422045 [GRCh38]
Chr1:216595386..216595387 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8289C>T (p.Asp2763=) single nucleotide variant not provided [RCV001442270] Chr1:215879033 [GRCh38]
Chr1:216052375 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6366A>G (p.Ala2122=) single nucleotide variant not provided [RCV001444648] Chr1:216000522 [GRCh38]
Chr1:216173864 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3384C>T (p.Thr1128=) single nucleotide variant not provided [RCV001444674] Chr1:216200054 [GRCh38]
Chr1:216373396 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3183A>G (p.Arg1061=) single nucleotide variant not provided [RCV001444682] Chr1:216207406 [GRCh38]
Chr1:216380748 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7434C>T (p.Ser2478=) single nucleotide variant not provided [RCV001447235] Chr1:215900772 [GRCh38]
Chr1:216074114 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10395C>T (p.Asn3465=) single nucleotide variant not provided [RCV001447251] Chr1:215782928 [GRCh38]
Chr1:215956270 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13098C>T (p.Ala4366=) single nucleotide variant not provided [RCV001410666] Chr1:215674813 [GRCh38]
Chr1:215848155 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5484C>T (p.Asp1828=) single nucleotide variant not provided [RCV001410676] Chr1:216078177 [GRCh38]
Chr1:216251519 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12819T>C (p.Tyr4273=) single nucleotide variant not provided [RCV001415980] Chr1:215675092 [GRCh38]
Chr1:215848434 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8949C>T (p.Val2983=) single nucleotide variant not provided [RCV001393375] Chr1:215845930 [GRCh38]
Chr1:216019272 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11660G>A (p.Trp3887Ter) single nucleotide variant not provided [RCV001385226] Chr1:215741426 [GRCh38]
Chr1:215914768 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14190C>T (p.Thr4730=) single nucleotide variant not provided [RCV001419103] Chr1:215650745 [GRCh38]
Chr1:215824087 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13869A>T (p.Thr4623=) single nucleotide variant not provided [RCV001401330] Chr1:215671236 [GRCh38]
Chr1:215844578 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13581C>T (p.Thr4527=) single nucleotide variant not provided [RCV001440142] Chr1:215674330 [GRCh38]
Chr1:215847672 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.297C>G (p.Ala99=) single nucleotide variant not provided [RCV001405344] Chr1:216422040 [GRCh38]
Chr1:216595382 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15111C>T (p.Phe5037=) single nucleotide variant not provided [RCV001405346] Chr1:215634645 [GRCh38]
Chr1:215807987 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11815_11816dup (p.Tyr3940fs) duplication not provided [RCV001390299] Chr1:215728279..215728280 [GRCh38]
Chr1:215901621..215901622 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.642T>C (p.Leu214=) single nucleotide variant not provided [RCV001407956] Chr1:216418523 [GRCh38]
Chr1:216591865 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14397T>C (p.Thr4799=) single nucleotide variant not provided [RCV001407980] Chr1:215648713 [GRCh38]
Chr1:215822055 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11549-10T>A single nucleotide variant not provided [RCV001407983] Chr1:215741547 [GRCh38]
Chr1:215914889 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.580T>C (p.Leu194=) single nucleotide variant not provided [RCV001408029] Chr1:216418585 [GRCh38]
Chr1:216591927 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2802T>A (p.Cys934Ter) single nucleotide variant not provided [RCV001383453] Chr1:216246592 [GRCh38]
Chr1:216419934 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4107A>G (p.Ser1369=) single nucleotide variant not provided [RCV001434262] Chr1:216196697 [GRCh38]
Chr1:216370039 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10380_10381del (p.Tyr3461fs) deletion not provided [RCV001388147] Chr1:215786676..215786677 [GRCh38]
Chr1:215960018..215960019 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003450079]|Usher syndrome type 2A [RCV002499807]|Usher syndrome type 2A [RCV003450078]|not provided [RCV001388190] Chr1:216048566 [GRCh38]
Chr1:216221908 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NC_000001.10:g.(?_190829412)_216061974del deletion not provided [RCV001388231]   pathogenic
NM_206933.4(USH2A):c.10183-6A>G single nucleotide variant not provided [RCV001405853] Chr1:215786880 [GRCh38]
Chr1:215960222 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10183-16C>T single nucleotide variant not provided [RCV001447533] Chr1:215786890 [GRCh38]
Chr1:215960232 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12844C>T (p.Leu4282=) single nucleotide variant not provided [RCV001434741] Chr1:215675067 [GRCh38]
Chr1:215848409 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8823C>A (p.Ile2941=) single nucleotide variant not provided [RCV001425412] Chr1:215867029 [GRCh38]
Chr1:216040371 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3316+2T>A single nucleotide variant not provided [RCV001379678] Chr1:216207271 [GRCh38]
Chr1:216380613 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1143+9A>G single nucleotide variant not provided [RCV001427030] Chr1:216325296 [GRCh38]
Chr1:216498638 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9591C>G (p.Leu3197=) single nucleotide variant not provided [RCV001427045] Chr1:215813884 [GRCh38]
Chr1:215987226 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4397-6A>G single nucleotide variant not provided [RCV001440252] Chr1:216175488 [GRCh38]
Chr1:216348830 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5286T>C (p.Pro1762=) single nucleotide variant not provided [RCV001431165] Chr1:216083468 [GRCh38]
Chr1:216256810 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4628-5A>G single nucleotide variant not provided [RCV001437491] Chr1:216097218 [GRCh38]
Chr1:216270560 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12801T>G (p.Ser4267=) single nucleotide variant not provided [RCV001426727] Chr1:215675110 [GRCh38]
Chr1:215848452 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.675_678del (p.Phe225fs) deletion Usher syndrome type 2A [RCV002307743]|not provided [RCV001388346] Chr1:216365059..216365062 [GRCh38]
Chr1:216538401..216538404 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9165_9168del (p.Ile3055fs) microsatellite not provided [RCV001381382] Chr1:215844384..215844387 [GRCh38]
Chr1:216017726..216017729 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8681+1G>T single nucleotide variant not provided [RCV001381384] Chr1:215877757 [GRCh38]
Chr1:216051099 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.486-9C>T single nucleotide variant not provided [RCV001442419] Chr1:216418688 [GRCh38]
Chr1:216592030 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8424G>A (p.Glu2808=) single nucleotide variant not provided [RCV001445076] Chr1:215878898 [GRCh38]
Chr1:216052240 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1482T>C (p.Tyr494=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451723]|Usher syndrome type 2A [RCV003451722]|not provided [RCV001410879] Chr1:216323542 [GRCh38]
Chr1:216496884 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8559-65T>C single nucleotide variant Usher syndrome type 2A [RCV001533606]|not provided [RCV001655823] Chr1:215877945 [GRCh38]
Chr1:216051287 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.848+103C>G single nucleotide variant Usher syndrome type 2A [RCV001533667]|not provided [RCV001712979] Chr1:216327488 [GRCh38]
Chr1:216500830 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.8846-53_8846-52del deletion not provided [RCV001534033] Chr1:215846085..215846086 [GRCh38]
Chr1:216019427..216019428 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.13335G>A (p.Glu4445=) single nucleotide variant not provided [RCV001434824] Chr1:215674576 [GRCh38]
Chr1:215847918 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9495dup (p.Glu3166Ter) duplication not provided [RCV001381743] Chr1:215817071..215817072 [GRCh38]
Chr1:215990413..215990414 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4251+1del deletion Retinitis pigmentosa 39 [RCV001587388]|Usher syndrome [RCV003120593]|Usher syndrome type 2A [RCV003446736]|not provided [RCV001381744] Chr1:216196552 [GRCh38]
Chr1:216369894 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10474G>A (p.Ala3492Thr) single nucleotide variant not provided [RCV001408333] Chr1:215782849 [GRCh38]
Chr1:215956191 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9117C>A (p.Ile3039=) single nucleotide variant not provided [RCV001408348] Chr1:215844435 [GRCh38]
Chr1:216017777 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12453T>C (p.Asp4151=) single nucleotide variant not provided [RCV001410723] Chr1:215675458 [GRCh38]
Chr1:215848800 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.848+2T>C single nucleotide variant Usher syndrome type 2A [RCV001831370]|not provided [RCV001379578] Chr1:216327589 [GRCh38]
Chr1:216500931 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.930G>A (p.Arg310=) single nucleotide variant not provided [RCV001401281] Chr1:216325518 [GRCh38]
Chr1:216498860 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5614_5615insTAACTTGGCAT (p.Ala1872fs) insertion not provided [RCV001381536] Chr1:216073258..216073259 [GRCh38]
Chr1:216246600..216246601 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11334A>C (p.Pro3778=) single nucleotide variant not provided [RCV001406167] Chr1:215758650 [GRCh38]
Chr1:215931992 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3372C>T (p.Tyr1124=) single nucleotide variant not provided [RCV001436608] Chr1:216200066 [GRCh38]
Chr1:216373408 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4164T>C (p.Asn1388=) single nucleotide variant not provided [RCV001437951] Chr1:216196640 [GRCh38]
Chr1:216369982 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.469G>T (p.Glu157Ter) single nucleotide variant not provided [RCV001380637] Chr1:216421868 [GRCh38]
Chr1:216595210 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3911_3917del (p.Ser1304fs) deletion not provided [RCV001387648] Chr1:216198479..216198485 [GRCh38]
Chr1:216371821..216371827 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7429G>A (p.Asp2477Asn) single nucleotide variant not provided [RCV001440419] Chr1:215900777 [GRCh38]
Chr1:216074119 [GRCh37]
Chr1:1q41
likely benign|conflicting interpretations of pathogenicity
NC_000001.10:g.(?_216262335)_(216270575_?)del deletion not provided [RCV001390578] Chr1:216262335..216270575 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216260041)_(216262501_?)del deletion not provided [RCV001390580] Chr1:216260041..216262501 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215940003)_(216108157_?)del deletion not provided [RCV001390581] Chr1:215940003..216108157 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5469A>C (p.Ala1823=) single nucleotide variant not provided [RCV001408436] Chr1:216078192 [GRCh38]
Chr1:216251534 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11610T>G (p.Leu3870=) single nucleotide variant not provided [RCV001408500] Chr1:215741476 [GRCh38]
Chr1:215914818 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6216G>A (p.Leu2072=) single nucleotide variant not provided [RCV001410998] Chr1:216046540 [GRCh38]
Chr1:216219882 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8223+7T>C single nucleotide variant not provided [RCV001411038] Chr1:215888419 [GRCh38]
Chr1:216061761 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_215802146)_(215808055_?)dup duplication not provided [RCV001377013] Chr1:215802146..215808055 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5028A>G (p.Val1676=) single nucleotide variant not provided [RCV001427098] Chr1:216084837 [GRCh38]
Chr1:216258179 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14124T>G (p.Tyr4708Ter) single nucleotide variant not provided [RCV001381584] Chr1:215670981 [GRCh38]
Chr1:215844323 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14418G>A (p.Glu4806=) single nucleotide variant not provided [RCV001429297] Chr1:215648692 [GRCh38]
Chr1:215822034 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9006A>C (p.Gly3002=) single nucleotide variant not provided [RCV001429331] Chr1:215845873 [GRCh38]
Chr1:216019215 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8760G>T (p.Thr2920=) single nucleotide variant not provided [RCV001440212] Chr1:215867092 [GRCh38]
Chr1:216040434 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11319A>G (p.Glu3773=) single nucleotide variant not provided [RCV001429370] Chr1:215758665 [GRCh38]
Chr1:215932007 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9378T>C (p.Leu3126=) single nucleotide variant not provided [RCV001411176] Chr1:215817189 [GRCh38]
Chr1:215990531 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11133C>T (p.Leu3711=) single nucleotide variant not provided [RCV001448054] Chr1:215759758 [GRCh38]
Chr1:215933100 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) deletion Usher syndrome type 2A [RCV001526705]|not provided [RCV001873709] Chr1:215817094 [GRCh38]
Chr1:215990436 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7080A>G (p.Thr2360=) single nucleotide variant not provided [RCV001424127] Chr1:215965357 [GRCh38]
Chr1:216138699 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10071del (p.Lys3357fs) deletion not provided [RCV001385595] Chr1:215790170 [GRCh38]
Chr1:215963512 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1449G>A (p.Thr483=) single nucleotide variant Retinitis pigmentosa 39 [RCV003451713]|Usher syndrome type 2A [RCV003451712]|not provided [RCV001400248] Chr1:216323575 [GRCh38]
Chr1:216496917 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4269A>G (p.Lys1423=) single nucleotide variant not provided [RCV001425781] Chr1:216190350 [GRCh38]
Chr1:216363692 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1743C>G (p.Ser581=) single nucleotide variant not provided [RCV001401620] Chr1:216292272 [GRCh38]
Chr1:216465614 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9285C>T (p.Cys3095=) single nucleotide variant not provided [RCV001419494] Chr1:215838077 [GRCh38]
Chr1:216011419 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13530T>C (p.Thr4510=) single nucleotide variant not provided [RCV001419509] Chr1:215674381 [GRCh38]
Chr1:215847723 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6621C>T (p.Tyr2207=) single nucleotide variant not provided [RCV001401649] Chr1:215998923 [GRCh38]
Chr1:216172265 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7002T>C (p.Asn2334=) single nucleotide variant not provided [RCV001401650] Chr1:215965435 [GRCh38]
Chr1:216138777 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9030A>G (p.Gly3010=) single nucleotide variant not provided [RCV001402678] Chr1:215845849 [GRCh38]
Chr1:216019191 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12003C>A (p.Val4001=) single nucleotide variant not provided [RCV001404028] Chr1:215728093 [GRCh38]
Chr1:215901435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3102T>C (p.Ala1034=) single nucleotide variant not provided [RCV001424084] Chr1:216217442 [GRCh38]
Chr1:216390784 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5991C>G (p.Thr1997=) single nucleotide variant not provided [RCV001445488] Chr1:216070159 [GRCh38]
Chr1:216243501 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5187A>G (p.Pro1729=) single nucleotide variant not provided [RCV001408884] Chr1:216083567 [GRCh38]
Chr1:216256909 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4305A>G (p.Lys1435=) single nucleotide variant not provided [RCV001445546] Chr1:216190314 [GRCh38]
Chr1:216363656 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5673C>T (p.Cys1891=) single nucleotide variant not provided [RCV001445549] Chr1:216073200 [GRCh38]
Chr1:216246542 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15534G>A (p.Glu5178=) single nucleotide variant not provided [RCV001411456] Chr1:215625856 [GRCh38]
Chr1:215799198 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14220C>T (p.Ala4740=) single nucleotide variant not provided [RCV001416395] Chr1:215650715 [GRCh38]
Chr1:215824057 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2040C>T (p.Phe680=) single nucleotide variant not provided [RCV001398619] Chr1:216251030 [GRCh38]
Chr1:216424372 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003473901]|not provided [RCV001377319] Chr1:215675386 [GRCh38]
Chr1:215848728 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs) deletion Usher syndrome type 2A [RCV001823203]|not provided [RCV001384276] Chr1:215934722..215934732 [GRCh38]
Chr1:216108064..216108074 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4218A>T (p.Ser1406=) single nucleotide variant not provided [RCV001416449] Chr1:216196586 [GRCh38]
Chr1:216369928 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6806-2A>G single nucleotide variant not provided [RCV001377373] Chr1:215970778 [GRCh38]
Chr1:216144120 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5379A>C (p.Leu1793=) single nucleotide variant not provided [RCV001425854] Chr1:216078282 [GRCh38]
Chr1:216251624 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5331G>C (p.Arg1777=) single nucleotide variant not provided [RCV001428420] Chr1:216078330 [GRCh38]
Chr1:216251672 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3455T>A (p.Leu1152Ter) single nucleotide variant not provided [RCV001390989] Chr1:216199983 [GRCh38]
Chr1:216373325 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.871G>T (p.Gly291Ter) single nucleotide variant not provided [RCV001390996] Chr1:216325577 [GRCh38]
Chr1:216498919 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14994G>A (p.Thr4998=) single nucleotide variant not provided [RCV001445374] Chr1:215639213 [GRCh38]
Chr1:215812555 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5352T>C (p.Phe1784=) single nucleotide variant not provided [RCV001445421] Chr1:216078309 [GRCh38]
Chr1:216251651 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6564A>G (p.Thr2188=) single nucleotide variant not provided [RCV001411194] Chr1:215998980 [GRCh38]
Chr1:216172322 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13446T>C (p.Asp4482=) single nucleotide variant not provided [RCV001448068] Chr1:215674465 [GRCh38]
Chr1:215847807 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11703T>C (p.Phe3901=) single nucleotide variant not provided [RCV001448087] Chr1:215741383 [GRCh38]
Chr1:215914725 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.540T>G (p.Ser180=) single nucleotide variant not provided [RCV001448091] Chr1:216418625 [GRCh38]
Chr1:216591967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6390C>T (p.Asn2130=) single nucleotide variant not provided [RCV001419527] Chr1:216000498 [GRCh38]
Chr1:216173840 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1416T>C (p.Asn472=) single nucleotide variant not provided [RCV001419614] Chr1:216323608 [GRCh38]
Chr1:216496950 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9239del (p.Phe3080fs) deletion not provided [RCV001381960] Chr1:215844313 [GRCh38]
Chr1:216017655 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14344-18C>G single nucleotide variant not provided [RCV001406541] Chr1:215648784 [GRCh38]
Chr1:215822126 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11088A>G (p.Thr3696=) single nucleotide variant not provided [RCV001445615] Chr1:215759803 [GRCh38]
Chr1:215933145 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14862C>T (p.Thr4954=) single nucleotide variant not provided [RCV001435214] Chr1:215640664 [GRCh38]
Chr1:215814006 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.69C>T (p.Ala23=) single nucleotide variant not provided [RCV001398724] Chr1:216422268 [GRCh38]
Chr1:216595610 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13641G>A (p.Glu4547=) single nucleotide variant not provided [RCV001435255] Chr1:215674270 [GRCh38]
Chr1:215847612 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1836T>C (p.Thr612=) single nucleotide variant not provided [RCV001439176] Chr1:216292179 [GRCh38]
Chr1:216465521 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7692C>A (p.Thr2564=) single nucleotide variant not provided [RCV001402920] Chr1:215888957 [GRCh38]
Chr1:216062299 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14274T>C (p.Pro4758=) single nucleotide variant not provided [RCV001406283] Chr1:215650661 [GRCh38]
Chr1:215824003 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12345T>C (p.Arg4115=) single nucleotide variant not provided [RCV001432046] Chr1:215675566 [GRCh38]
Chr1:215848908 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6738C>A (p.Ala2246=) single nucleotide variant not provided [RCV001445538] Chr1:215993087 [GRCh38]
Chr1:216166429 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10692A>T (p.Ser3564=) single nucleotide variant not provided [RCV001408906] Chr1:215782090 [GRCh38]
Chr1:215955432 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13926A>T (p.Val4642=) single nucleotide variant not provided [RCV001408936] Chr1:215671179 [GRCh38]
Chr1:215844521 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1550+8T>C single nucleotide variant not provided [RCV001448147] Chr1:216323466 [GRCh38]
Chr1:216496808 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6958-8A>C single nucleotide variant not provided [RCV001411499] Chr1:215965487 [GRCh38]
Chr1:216138829 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14796T>G (p.Pro4932=) single nucleotide variant not provided [RCV001424476] Chr1:215640730 [GRCh38]
Chr1:215814072 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9528T>G (p.Pro3176=) single nucleotide variant Usher syndrome type 2A [RCV001831484]|not provided [RCV001427606] Chr1:215817039 [GRCh38]
Chr1:215990381 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8482del (p.Ser2828fs) deletion not provided [RCV001382089] Chr1:215878840 [GRCh38]
Chr1:216052182 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13620G>A (p.Leu4540=) single nucleotide variant not provided [RCV001448485] Chr1:215674291 [GRCh38]
Chr1:215847633 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=) single nucleotide variant Usher syndrome type 2A [RCV001832557]|not provided [RCV001436946] Chr1:216200033 [GRCh38]
Chr1:216373375 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216251411)_(216251724_?)del deletion not provided [RCV001387914] Chr1:216251411..216251724 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216172699)_216173911del deletion not provided [RCV001387915]   pathogenic
NM_206933.4(USH2A):c.14205A>G (p.Pro4735=) single nucleotide variant not provided [RCV001428530] Chr1:215650730 [GRCh38]
Chr1:215824072 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13134G>A (p.Pro4378=) single nucleotide variant not provided [RCV001403006] Chr1:215674777 [GRCh38]
Chr1:215848119 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1668T>C (p.Tyr556=) single nucleotide variant not provided [RCV001403007] Chr1:216292347 [GRCh38]
Chr1:216465689 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1956C>T (p.Ser652=) single nucleotide variant not provided [RCV001404322] Chr1:216289295 [GRCh38]
Chr1:216462637 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10388-10C>A single nucleotide variant not provided [RCV001404337] Chr1:215782945 [GRCh38]
Chr1:215956287 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5103C>T (p.Asn1701=) single nucleotide variant not provided [RCV001406465] Chr1:216084762 [GRCh38]
Chr1:216258104 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12531G>A (p.Glu4177=) single nucleotide variant not provided [RCV001411548] Chr1:215675380 [GRCh38]
Chr1:215848722 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6975A>G (p.Leu2325=) single nucleotide variant not provided [RCV001424579] Chr1:215965462 [GRCh38]
Chr1:216138804 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15126G>A (p.Trp5042Ter) single nucleotide variant not provided [RCV001384687] Chr1:215634630 [GRCh38]
Chr1:215807972 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2004G>A (p.Val668=) single nucleotide variant not provided [RCV001402022] Chr1:216251066 [GRCh38]
Chr1:216424408 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10692A>G (p.Ser3564=) single nucleotide variant not provided [RCV001419913] Chr1:215782090 [GRCh38]
Chr1:215955432 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_215799113)_(215853728_?)del deletion not provided [RCV001380223] Chr1:215799113..215853728 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10314del (p.Ser3439fs) deletion not provided [RCV001382113] Chr1:215786743 [GRCh38]
Chr1:215960085 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4407A>G (p.Gln1469=) single nucleotide variant not provided [RCV001404431] Chr1:216175472 [GRCh38]
Chr1:216348814 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5805T>C (p.His1935=) single nucleotide variant not provided [RCV001443379] Chr1:216072941 [GRCh38]
Chr1:216246283 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15336T>C (p.Pro5112=) single nucleotide variant not provided [RCV001432495] Chr1:215628997 [GRCh38]
Chr1:215802339 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.681C>T (p.Ile227=) single nucleotide variant not provided [RCV001445923] Chr1:216365056 [GRCh38]
Chr1:216538398 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9585A>G (p.Gly3195=) single nucleotide variant not provided [RCV001446037] Chr1:215813890 [GRCh38]
Chr1:215987232 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14457A>C (p.Thr4819=) single nucleotide variant not provided [RCV001448583] Chr1:215648653 [GRCh38]
Chr1:215821995 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12450A>G (p.Thr4150=) single nucleotide variant not provided [RCV001448612] Chr1:215675461 [GRCh38]
Chr1:215848803 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9258+213C>T single nucleotide variant not provided [RCV001536173] Chr1:215844081 [GRCh38]
Chr1:216017423 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8826C>T (p.Asp2942=) single nucleotide variant not provided [RCV001457424] Chr1:215867026 [GRCh38]
Chr1:216040368 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1449G>C (p.Thr483=) single nucleotide variant not provided [RCV001505270] Chr1:216323575 [GRCh38]
Chr1:216496917 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10449G>A (p.Gly3483=) single nucleotide variant not provided [RCV001489687] Chr1:215782874 [GRCh38]
Chr1:215956216 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13781A>G (p.Tyr4594Cys) single nucleotide variant not provided [RCV001489836] Chr1:215674130 [GRCh38]
Chr1:215847472 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14134-53del deletion not provided [RCV001652828] Chr1:215650854 [GRCh38]
Chr1:215824196 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.240C>T (p.Thr80=) single nucleotide variant not provided [RCV001457029] Chr1:216422097 [GRCh38]
Chr1:216595439 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8682-53A>G single nucleotide variant Usher syndrome type 2A [RCV001827591]|not provided [RCV001725288] Chr1:215867223 [GRCh38]
Chr1:216040565 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4932A>G (p.Thr1644=) single nucleotide variant not provided [RCV001457519] Chr1:216086774 [GRCh38]
Chr1:216260116 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14344-19G>A single nucleotide variant not provided [RCV001457547] Chr1:215648785 [GRCh38]
Chr1:215822127 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15357G>A (p.Arg5119=) single nucleotide variant not provided [RCV001485805] Chr1:215628976 [GRCh38]
Chr1:215802318 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14952G>A (p.Pro4984=) single nucleotide variant not provided [RCV001490094] Chr1:215640574 [GRCh38]
Chr1:215813916 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13761T>C (p.Asn4587=) single nucleotide variant not provided [RCV001461426] Chr1:215674150 [GRCh38]
Chr1:215847492 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15298-7T>C single nucleotide variant not provided [RCV001457164] Chr1:215629042 [GRCh38]
Chr1:215802384 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9571-216G>A single nucleotide variant not provided [RCV001668814] Chr1:215814120 [GRCh38]
Chr1:215987462 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14583-359T>C single nucleotide variant not provided [RCV001715207] Chr1:215648089 [GRCh38]
Chr1:215821431 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4005T>C (p.Tyr1335=) single nucleotide variant not provided [RCV001468673] Chr1:216198391 [GRCh38]
Chr1:216371733 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+315A>G single nucleotide variant not provided [RCV001670704] Chr1:215877443 [GRCh38]
Chr1:216050785 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7068T>C (p.Asn2356=) single nucleotide variant not provided [RCV001450476] Chr1:215965369 [GRCh38]
Chr1:216138711 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=) single nucleotide variant Usher syndrome type 2A [RCV001832582]|not provided [RCV001450503] Chr1:215799094 [GRCh38]
Chr1:215972436 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2713T>C (p.Leu905=) single nucleotide variant not provided [RCV001454391] Chr1:216246681 [GRCh38]
Chr1:216420023 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+2del deletion not provided [RCV001682691] Chr1:215758593 [GRCh38]
Chr1:215931935 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9690A>G (p.Ala3230=) single nucleotide variant not provided [RCV001450951] Chr1:215813785 [GRCh38]
Chr1:215987127 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13788A>G (p.Val4596=) single nucleotide variant not provided [RCV001458364] Chr1:215674123 [GRCh38]
Chr1:215847465 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3812-4C>G single nucleotide variant not provided [RCV001490770] Chr1:216198588 [GRCh38]
Chr1:216371930 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3546T>C (p.Tyr1182=) single nucleotide variant not provided [RCV001495489] Chr1:216199892 [GRCh38]
Chr1:216373234 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15469T>C (p.Leu5157=) single nucleotide variant not provided [RCV001495599] Chr1:215628864 [GRCh38]
Chr1:215802206 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8532A>T (p.Pro2844=) single nucleotide variant not provided [RCV001495626] Chr1:215878790 [GRCh38]
Chr1:216052132 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8559-217C>T single nucleotide variant not provided [RCV001588618] Chr1:215878097 [GRCh38]
Chr1:216051439 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3009T>C (p.Asn1003=) single nucleotide variant not provided [RCV001451335] Chr1:216217535 [GRCh38]
Chr1:216390877 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1461T>C (p.Phe487=) single nucleotide variant not provided [RCV001482605] Chr1:216323563 [GRCh38]
Chr1:216496905 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7275T>C (p.Pro2425=) single nucleotide variant not provided [RCV001502951] Chr1:215934641 [GRCh38]
Chr1:216107983 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3027C>T (p.Ala1009=) single nucleotide variant not provided [RCV001502968] Chr1:216217517 [GRCh38]
Chr1:216390859 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14792-67del deletion not provided [RCV001654826] Chr1:215640801 [GRCh38]
Chr1:215814143 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1144-10C>T single nucleotide variant not provided [RCV001496098] Chr1:216324362 [GRCh38]
Chr1:216497704 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7386C>T (p.Asn2462=) single nucleotide variant not provided [RCV001451415] Chr1:215900820 [GRCh38]
Chr1:216074162 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3006T>C (p.Cys1002=) single nucleotide variant not provided [RCV001469018] Chr1:216217538 [GRCh38]
Chr1:216390880 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15171T>C (p.Ile5057=) single nucleotide variant not provided [RCV001491107] Chr1:215634585 [GRCh38]
Chr1:215807927 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-264A>G single nucleotide variant not provided [RCV001679780] Chr1:215743599 [GRCh38]
Chr1:215916941 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4627+367C>T single nucleotide variant not provided [RCV001684533] Chr1:216174885 [GRCh38]
Chr1:216348227 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4251+57del deletion not provided [RCV001651424] Chr1:216196496 [GRCh38]
Chr1:216369838 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12066+186A>G single nucleotide variant not provided [RCV001593564] Chr1:215727844 [GRCh38]
Chr1:215901186 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10487A>C (p.Glu3496Ala) single nucleotide variant Inborn genetic diseases [RCV003264043]|not provided [RCV001476094] Chr1:215782836 [GRCh38]
Chr1:215956178 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.1550+8T>G single nucleotide variant not provided [RCV001465562] Chr1:216323466 [GRCh38]
Chr1:216496808 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10722C>T (p.Gly3574=) single nucleotide variant not provided [RCV001465572] Chr1:215782060 [GRCh38]
Chr1:215955402 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1473G>A (p.Gly491=) single nucleotide variant not provided [RCV001465588] Chr1:216323551 [GRCh38]
Chr1:216496893 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5883A>G (p.Ser1961=) single nucleotide variant not provided [RCV001482972] Chr1:216070267 [GRCh38]
Chr1:216243609 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14968+234C>T single nucleotide variant not provided [RCV001592677] Chr1:215640324 [GRCh38]
Chr1:215813666 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2619G>A (p.Gly873=) single nucleotide variant not provided [RCV001506739] Chr1:216246775 [GRCh38]
Chr1:216420117 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11549-7T>G single nucleotide variant not provided [RCV001469396] Chr1:215741544 [GRCh38]
Chr1:215914886 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6486-4C>A single nucleotide variant not provided [RCV001473998] Chr1:215999062 [GRCh38]
Chr1:216172404 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11712-7C>T single nucleotide variant not provided [RCV001475861] Chr1:215728391 [GRCh38]
Chr1:215901733 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9156G>A (p.Glu3052=) single nucleotide variant not provided [RCV001451381] Chr1:215844396 [GRCh38]
Chr1:216017738 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10854C>A (p.Gly3618=) single nucleotide variant not provided [RCV001451398] Chr1:215779928 [GRCh38]
Chr1:215953270 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4760G>A (p.Gly1587Glu) single nucleotide variant not provided [RCV001454904] Chr1:216089138 [GRCh38]
Chr1:216262480 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9048C>T (p.Cys3016=) single nucleotide variant not provided [RCV001482564] Chr1:215845831 [GRCh38]
Chr1:216019173 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7595-110del deletion not provided [RCV001611167] Chr1:215889164 [GRCh38]
Chr1:216062506 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5573-1005_5573-1004insG insertion not provided [RCV001710036] Chr1:216074304..216074305 [GRCh38]
Chr1:216247646..216247647 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9372-131G>T single nucleotide variant not provided [RCV001593364] Chr1:215817326 [GRCh38]
Chr1:215990668 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5916G>A (p.Glu1972=) single nucleotide variant not provided [RCV001479711] Chr1:216070234 [GRCh38]
Chr1:216243576 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11625T>G (p.Leu3875=) single nucleotide variant not provided [RCV001455328] Chr1:215741461 [GRCh38]
Chr1:215914803 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14703C>T (p.Pro4901=) single nucleotide variant not provided [RCV001483084] Chr1:215647610 [GRCh38]
Chr1:215820952 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5115C>T (p.Ser1705=) single nucleotide variant not provided [RCV001483106] Chr1:216084750 [GRCh38]
Chr1:216258092 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7718G>C (p.Arg2573Pro) single nucleotide variant not provided [RCV001465867] Chr1:215888931 [GRCh38]
Chr1:216062273 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2658G>A (p.Arg886=) single nucleotide variant not provided [RCV001458956] Chr1:216246736 [GRCh38]
Chr1:216420078 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5820A>G (p.Val1940=) single nucleotide variant not provided [RCV001506945] Chr1:216072926 [GRCh38]
Chr1:216246268 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13371A>G (p.Ser4457=) single nucleotide variant not provided [RCV001499845] Chr1:215674540 [GRCh38]
Chr1:215847882 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3317-25dup duplication Retinitis pigmentosa 39 [RCV003446814]|Usher syndrome type 2A [RCV003446813]|not provided [RCV001538095] Chr1:216200134..216200135 [GRCh38]
Chr1:216373476..216373477 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.651+7A>G single nucleotide variant not provided [RCV001459301] Chr1:216418507 [GRCh38]
Chr1:216591849 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9141T>C (p.Asn3047=) single nucleotide variant not provided [RCV001500237] Chr1:215844411 [GRCh38]
Chr1:216017753 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6657+29C>A single nucleotide variant not provided [RCV001619126] Chr1:215998858 [GRCh38]
Chr1:216172200 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9958+128A>G single nucleotide variant not provided [RCV001717037] Chr1:215798779 [GRCh38]
Chr1:215972121 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.13362C>T (p.Val4454=) single nucleotide variant not provided [RCV001469813] Chr1:215674549 [GRCh38]
Chr1:215847891 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12846G>C (p.Leu4282=) single nucleotide variant not provided [RCV001476304] Chr1:215675065 [GRCh38]
Chr1:215848407 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15136T>C (p.Leu5046=) single nucleotide variant not provided [RCV001451848] Chr1:215634620 [GRCh38]
Chr1:215807962 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4988-287T>A single nucleotide variant not provided [RCV001693969] Chr1:216085164 [GRCh38]
Chr1:216258506 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15520-194A>T single nucleotide variant not provided [RCV001649702] Chr1:215626064 [GRCh38]
Chr1:215799406 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9959-343C>A single nucleotide variant not provided [RCV001687394] Chr1:215790625 [GRCh38]
Chr1:215963967 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1841-10C>T single nucleotide variant not provided [RCV001462845] Chr1:216289420 [GRCh38]
Chr1:216462762 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1962T>C (p.Leu654=) single nucleotide variant not provided [RCV001466120] Chr1:216289289 [GRCh38]
Chr1:216462631 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5769T>G (p.Pro1923=) single nucleotide variant not provided [RCV001497025] Chr1:216073104 [GRCh38]
Chr1:216246446 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15303A>G (p.Leu5101=) single nucleotide variant not provided [RCV001452327] Chr1:215629030 [GRCh38]
Chr1:215802372 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4885+7A>G single nucleotide variant not provided [RCV001459212] Chr1:216089006 [GRCh38]
Chr1:216262348 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4107A>C (p.Ser1369=) single nucleotide variant not provided [RCV001459309] Chr1:216196697 [GRCh38]
Chr1:216370039 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10350C>G (p.Thr3450=) single nucleotide variant not provided [RCV001479907] Chr1:215786707 [GRCh38]
Chr1:215960049 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12067-182C>G single nucleotide variant not provided [RCV001528056] Chr1:215680558 [GRCh38]
Chr1:215853900 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11390-67C>T single nucleotide variant not provided [RCV001584922] Chr1:215743402 [GRCh38]
Chr1:215916744 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6099T>C (p.Thr2033=) single nucleotide variant not provided [RCV001503825] Chr1:216048598 [GRCh38]
Chr1:216221940 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.-205+226T>C single nucleotide variant not provided [RCV001715321] Chr1:216422988 [GRCh38]
Chr1:216596330 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14847G>T (p.Val4949=) single nucleotide variant not provided [RCV001497272] Chr1:215640679 [GRCh38]
Chr1:215814021 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15564C>T (p.Ser5188=) single nucleotide variant not provided [RCV001459759] Chr1:215625826 [GRCh38]
Chr1:215799168 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1428T>G (p.Leu476=) single nucleotide variant not provided [RCV001496982] Chr1:216323596 [GRCh38]
Chr1:216496938 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5472G>A (p.Ser1824=) single nucleotide variant not provided [RCV001455615] Chr1:216078189 [GRCh38]
Chr1:216251531 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1695T>C (p.Asp565=) single nucleotide variant not provided [RCV001480289] Chr1:216292320 [GRCh38]
Chr1:216465662 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1550+196del deletion not provided [RCV001611684] Chr1:216323278 [GRCh38]
Chr1:216496620 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4987+200C>T single nucleotide variant not provided [RCV001654697] Chr1:216086519 [GRCh38]
Chr1:216259861 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10940-11G>C single nucleotide variant not provided [RCV001456091] Chr1:215766799 [GRCh38]
Chr1:215940141 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12295-8T>C single nucleotide variant not provided [RCV001480657] Chr1:215675624 [GRCh38]
Chr1:215848966 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11215C>T (p.Leu3739=) single nucleotide variant not provided [RCV001456138] Chr1:215759676 [GRCh38]
Chr1:215933018 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4812T>C (p.Asp1604=) single nucleotide variant not provided [RCV001480672] Chr1:216089086 [GRCh38]
Chr1:216262428 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4989G>A (p.Glu1663=) single nucleotide variant not provided [RCV001500850] Chr1:216084876 [GRCh38]
Chr1:216258218 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15264A>G (p.Pro5088=) single nucleotide variant not provided [RCV001466565] Chr1:215634492 [GRCh38]
Chr1:215807834 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11349A>G (p.Val3783=) single nucleotide variant not provided [RCV001452762] Chr1:215758635 [GRCh38]
Chr1:215931977 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13584C>T (p.Ser4528=) single nucleotide variant not provided [RCV001470434] Chr1:215674327 [GRCh38]
Chr1:215847669 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13662T>A (p.Pro4554=) single nucleotide variant not provided [RCV001452629] Chr1:215674249 [GRCh38]
Chr1:215847591 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+3G>A single nucleotide variant not provided [RCV001611861] Chr1:215877755 [GRCh38]
Chr1:216051097 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10939+182G>A single nucleotide variant not provided [RCV001614444] Chr1:215779661 [GRCh38]
Chr1:215953003 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.5451T>C (p.Asn1817=) single nucleotide variant not provided [RCV001501078] Chr1:216078210 [GRCh38]
Chr1:216251552 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11424T>C (p.Asn3808=) single nucleotide variant not provided [RCV001466830] Chr1:215743301 [GRCh38]
Chr1:215916643 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6186A>G (p.Pro2062=) single nucleotide variant not provided [RCV001497764] Chr1:216046570 [GRCh38]
Chr1:216219912 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8025C>A (p.Leu2675=) single nucleotide variant not provided [RCV001497816] Chr1:215888624 [GRCh38]
Chr1:216061966 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6806-117_6806-116del microsatellite not provided [RCV001672020] Chr1:215970892..215970893 [GRCh38]
Chr1:216144234..216144235 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.921C>T (p.Ser307=) single nucleotide variant not provided [RCV001456117] Chr1:216325527 [GRCh38]
Chr1:216498869 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3759A>G (p.Lys1253=) single nucleotide variant not provided [RCV001501085] Chr1:216199679 [GRCh38]
Chr1:216373021 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15053-4G>T single nucleotide variant not provided [RCV001522675] Chr1:215634707 [GRCh38]
Chr1:215808049 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.14637T>C (p.Thr4879=) single nucleotide variant not provided [RCV001470882] Chr1:215647676 [GRCh38]
Chr1:215821018 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7872G>A (p.Pro2624=) single nucleotide variant not provided [RCV001453467] Chr1:215888777 [GRCh38]
Chr1:216062119 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6486-18G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003446794]|Usher syndrome type 2A [RCV003446793]|not provided [RCV001513646] Chr1:215999076 [GRCh38]
Chr1:216172418 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.15021G>A (p.Pro5007=) single nucleotide variant not provided [RCV001481146] Chr1:215639186 [GRCh38]
Chr1:215812528 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7956C>A (p.Gly2652=) single nucleotide variant not provided [RCV001467275] Chr1:215888693 [GRCh38]
Chr1:216062035 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14664G>C (p.Thr4888=) single nucleotide variant not provided [RCV001467290] Chr1:215647649 [GRCh38]
Chr1:215820991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5229G>A (p.Lys1743=) single nucleotide variant not provided [RCV001453527] Chr1:216083525 [GRCh38]
Chr1:216256867 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9333T>C (p.Ser3111=) single nucleotide variant not provided [RCV001471298] Chr1:215838029 [GRCh38]
Chr1:216011371 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5406A>G (p.Lys1802=) single nucleotide variant not provided [RCV001471359] Chr1:216078255 [GRCh38]
Chr1:216251597 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12420T>C (p.Cys4140=) single nucleotide variant not provided [RCV001463746] Chr1:215675491 [GRCh38]
Chr1:215848833 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs) insertion Retinitis pigmentosa [RCV001724839] Chr1:216073259..216073260 [GRCh38]
Chr1:216246601..216246602 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9958+273G>A single nucleotide variant not provided [RCV001680993] Chr1:215798634 [GRCh38]
Chr1:215971976 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7089C>G (p.Val2363=) single nucleotide variant not provided [RCV001478308] Chr1:215965348 [GRCh38]
Chr1:216138690 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9582C>T (p.Asn3194=) single nucleotide variant not provided [RCV001498493] Chr1:215813893 [GRCh38]
Chr1:215987235 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.894C>T (p.Ala298=) single nucleotide variant not provided [RCV001498578] Chr1:216325554 [GRCh38]
Chr1:216498896 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-1050GA[12] microsatellite not provided [RCV001540112] Chr1:216074325..216074326 [GRCh38]
Chr1:216247667..216247668 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1329-8A>C single nucleotide variant not provided [RCV001501536] Chr1:216323703 [GRCh38]
Chr1:216497045 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13140A>G (p.Thr4380=) single nucleotide variant not provided [RCV001485299] Chr1:215674771 [GRCh38]
Chr1:215848113 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4089A>C (p.Val1363=) single nucleotide variant not provided [RCV001489145] Chr1:216196715 [GRCh38]
Chr1:216370057 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4396+9G>C single nucleotide variant not provided [RCV001453548] Chr1:216190214 [GRCh38]
Chr1:216363556 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8846-52del deletion not provided [RCV001666053] Chr1:215846085 [GRCh38]
Chr1:216019427 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV001591879]|Usher syndrome type 2A [RCV001591878]|not provided [RCV003314694] Chr1:216190235 [GRCh38]
Chr1:216363577 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV001591881]|Retinitis pigmentosa [RCV003324566]|not provided [RCV001882712] Chr1:216323546 [GRCh38]
Chr1:216496888 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.5292dup (p.Leu1765fs) duplication Usher syndrome type 2A [RCV001591882] Chr1:216083461..216083462 [GRCh38]
Chr1:216256803..216256804 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9960T>C (p.Gly3320=) single nucleotide variant not provided [RCV001478484] Chr1:215790281 [GRCh38]
Chr1:215963623 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3975C>A (p.Thr1325=) single nucleotide variant not provided [RCV001498709] Chr1:216198421 [GRCh38]
Chr1:216371763 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2439G>C (p.Gly813=) single nucleotide variant not provided [RCV001498713] Chr1:216246955 [GRCh38]
Chr1:216420297 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11415G>C (p.Val3805=) single nucleotide variant not provided [RCV001501595] Chr1:215743310 [GRCh38]
Chr1:215916652 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5070T>G (p.Pro1690=) single nucleotide variant not provided [RCV001464154] Chr1:216084795 [GRCh38]
Chr1:216258137 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8184G>A (p.Gln2728=) single nucleotide variant not provided [RCV001501646] Chr1:215888465 [GRCh38]
Chr1:216061807 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5674C>T (p.Leu1892=) single nucleotide variant not provided [RCV001456962] Chr1:216073199 [GRCh38]
Chr1:216246541 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10263C>T (p.Thr3421=) single nucleotide variant not provided [RCV001484870] Chr1:215786794 [GRCh38]
Chr1:215960136 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6828A>G (p.Leu2276=) single nucleotide variant not provided [RCV001478303] Chr1:215970754 [GRCh38]
Chr1:216144096 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8979T>C (p.Tyr2993=) single nucleotide variant not provided [RCV001481355] Chr1:215845900 [GRCh38]
Chr1:216019242 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8133C>T (p.Ser2711=) single nucleotide variant not provided [RCV001436072] Chr1:215888516 [GRCh38]
Chr1:216061858 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3684T>A (p.Cys1228Ter) single nucleotide variant not provided [RCV001386857] Chr1:216199754 [GRCh38]
Chr1:216373096 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12741G>C (p.Gly4247=) single nucleotide variant not provided [RCV001427237] Chr1:215675170 [GRCh38]
Chr1:215848512 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4491T>C (p.Ser1497=) single nucleotide variant not provided [RCV001427249] Chr1:216175388 [GRCh38]
Chr1:216348730 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15114C>T (p.Tyr5038=) single nucleotide variant not provided [RCV001401671] Chr1:215634642 [GRCh38]
Chr1:215807984 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13393A>T (p.Lys4465Ter) single nucleotide variant not provided [RCV001387874] Chr1:215674518 [GRCh38]
Chr1:215847860 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3093G>A (p.Lys1031=) single nucleotide variant not provided [RCV001402988] Chr1:216217451 [GRCh38]
Chr1:216390793 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13647A>G (p.Leu4549=) single nucleotide variant not provided [RCV001441960] Chr1:215674264 [GRCh38]
Chr1:215847606 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-10T>C single nucleotide variant not provided [RCV001442039] Chr1:215671303 [GRCh38]
Chr1:215844645 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6531A>G (p.Val2177=) single nucleotide variant not provided [RCV001477494] Chr1:215999013 [GRCh38]
Chr1:216172355 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8961A>G (p.Leu2987=) single nucleotide variant not provided [RCV001466985] Chr1:215845918 [GRCh38]
Chr1:216019260 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.315C>T (p.Leu105=) single nucleotide variant not provided [RCV001490389] Chr1:216422022 [GRCh38]
Chr1:216595364 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.513G>A (p.Gly171=) single nucleotide variant not provided [RCV001424875] Chr1:216418652 [GRCh38]
Chr1:216591994 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5721G>T (p.Leu1907=) single nucleotide variant not provided [RCV001401319] Chr1:216073152 [GRCh38]
Chr1:216246494 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.510T>C (p.Asp170=) single nucleotide variant not provided [RCV001437837] Chr1:216418655 [GRCh38]
Chr1:216591997 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4692C>A (p.Gly1564=) single nucleotide variant not provided [RCV001403106] Chr1:216097149 [GRCh38]
Chr1:216270491 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14686C>T (p.Leu4896Phe) single nucleotide variant not provided [RCV001442232] Chr1:215647627 [GRCh38]
Chr1:215820969 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.39G>A (p.Leu13=) single nucleotide variant not provided [RCV001450975] Chr1:216422298 [GRCh38]
Chr1:216595640 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7491G>A (p.Val2497=) single nucleotide variant not provided [RCV001497694] Chr1:215900178 [GRCh38]
Chr1:216073520 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.195T>C (p.Thr65=) single nucleotide variant not provided [RCV001456895] Chr1:216422142 [GRCh38]
Chr1:216595484 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7594+7G>T single nucleotide variant not provided [RCV001465542] Chr1:215900068 [GRCh38]
Chr1:216073410 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14580C>T (p.His4860=) single nucleotide variant not provided [RCV001484397] Chr1:215648530 [GRCh38]
Chr1:215821872 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11010G>A (p.Glu3670=) single nucleotide variant not provided [RCV001484414] Chr1:215766718 [GRCh38]
Chr1:215940060 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14760C>G (p.Ser4920=) single nucleotide variant not provided [RCV001504643] Chr1:215647553 [GRCh38]
Chr1:215820895 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5104G>A (p.Val1702Met) single nucleotide variant not provided [RCV001467157] Chr1:216084761 [GRCh38]
Chr1:216258103 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10413A>C (p.Thr3471=) single nucleotide variant not provided [RCV001485829] Chr1:215782910 [GRCh38]
Chr1:215956252 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12867A>G (p.Glu4289=) single nucleotide variant not provided [RCV001485835] Chr1:215675044 [GRCh38]
Chr1:215848386 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5850A>T (p.Thr1950=) single nucleotide variant not provided [RCV001490409] Chr1:216072896 [GRCh38]
Chr1:216246238 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5858-4A>C single nucleotide variant not provided [RCV001450501] Chr1:216070296 [GRCh38]
Chr1:216243638 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13509G>A (p.Val4503=) single nucleotide variant not provided [RCV001439643] Chr1:215674402 [GRCh38]
Chr1:215847744 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9303C>A (p.Thr3101=) single nucleotide variant not provided [RCV001439644] Chr1:215838059 [GRCh38]
Chr1:216011401 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11048-9T>G single nucleotide variant not provided [RCV001455331] Chr1:215759852 [GRCh38]
Chr1:215933194 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6777C>T (p.Val2259=) single nucleotide variant not provided [RCV001481981] Chr1:215993048 [GRCh38]
Chr1:216166390 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1926C>T (p.Asp642=) single nucleotide variant not provided [RCV001464690] Chr1:216289325 [GRCh38]
Chr1:216462667 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3158-8T>C single nucleotide variant not provided [RCV001503039] Chr1:216207439 [GRCh38]
Chr1:216380781 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9870T>C (p.His3290=) single nucleotide variant not provided [RCV001467266] Chr1:215798995 [GRCh38]
Chr1:215972337 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11403C>T (p.Pro3801=) single nucleotide variant not provided [RCV001467268] Chr1:215743322 [GRCh38]
Chr1:215916664 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3717C>G (p.Ala1239=) single nucleotide variant not provided [RCV001506527] Chr1:216199721 [GRCh38]
Chr1:216373063 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1692T>A (p.Gly564=) single nucleotide variant not provided [RCV001473505] Chr1:216292323 [GRCh38]
Chr1:216465665 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11952T>C (p.Asn3984=) single nucleotide variant not provided [RCV001417506] Chr1:215728144 [GRCh38]
Chr1:215901486 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9687G>A (p.Glu3229=) single nucleotide variant not provided [RCV001498532] Chr1:215813788 [GRCh38]
Chr1:215987130 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14040G>A (p.Gln4680=) single nucleotide variant not provided [RCV001439721] Chr1:215671065 [GRCh38]
Chr1:215844407 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4353T>C (p.Gly1451=) single nucleotide variant not provided [RCV001406104] Chr1:216190266 [GRCh38]
Chr1:216363608 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15053-18T>G single nucleotide variant not provided [RCV001510035] Chr1:215634721 [GRCh38]
Chr1:215808063 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7301-65C>T single nucleotide variant Retinitis pigmentosa 39 [RCV003446792]|Usher syndrome type 2A [RCV003446791]|not provided [RCV001513128] Chr1:215900970 [GRCh38]
Chr1:216074312 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.12981C>T (p.Ser4327=) single nucleotide variant not provided [RCV001500258] Chr1:215674930 [GRCh38]
Chr1:215848272 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14172C>T (p.Ser4724=) single nucleotide variant not provided [RCV001481599] Chr1:215650763 [GRCh38]
Chr1:215824105 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2760C>T (p.Cys920=) single nucleotide variant not provided [RCV001482090] Chr1:216246634 [GRCh38]
Chr1:216419976 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10585+10T>C single nucleotide variant not provided [RCV001473847] Chr1:215782728 [GRCh38]
Chr1:215956070 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14582+8G>A single nucleotide variant not provided [RCV001491136] Chr1:215648520 [GRCh38]
Chr1:215821862 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13872C>T (p.Phe4624=) single nucleotide variant not provided [RCV001458409] Chr1:215671233 [GRCh38]
Chr1:215844575 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6423G>T (p.Leu2141=) single nucleotide variant not provided [RCV001453880] Chr1:216000465 [GRCh38]
Chr1:216173807 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10458C>T (p.Leu3486=) single nucleotide variant not provided [RCV001498648] Chr1:215782865 [GRCh38]
Chr1:215956207 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11106G>A (p.Trp3702Ter) single nucleotide variant not provided [RCV001388542] Chr1:215759785 [GRCh38]
Chr1:215933127 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12886C>T (p.Gln4296Ter) single nucleotide variant not provided [RCV001390852] Chr1:215675025 [GRCh38]
Chr1:215848367 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.516G>A (p.Gln172=) single nucleotide variant not provided [RCV001431723] Chr1:216418649 [GRCh38]
Chr1:216591991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14292C>A (p.Ile4764=) single nucleotide variant not provided [RCV001442745] Chr1:215650643 [GRCh38]
Chr1:215823985 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1170T>C (p.Phe390=) single nucleotide variant not provided [RCV001458563] Chr1:216324326 [GRCh38]
Chr1:216497668 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12387A>T (p.Thr4129=) single nucleotide variant not provided [RCV001477983] Chr1:215675524 [GRCh38]
Chr1:215848866 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-24CT[8] microsatellite Usher syndrome type 2A [RCV001832693]|not provided [RCV001513473] Chr1:215743342..215743343 [GRCh38]
Chr1:215916684..215916685 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.9259-7T>C single nucleotide variant not provided [RCV001462866] Chr1:215838110 [GRCh38]
Chr1:216011452 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15381G>C (p.Pro5127=) single nucleotide variant not provided [RCV001501965] Chr1:215628952 [GRCh38]
Chr1:215802294 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3909C>T (p.Leu1303=) single nucleotide variant not provided [RCV001457640] Chr1:216198487 [GRCh38]
Chr1:216371829 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.724C>T (p.Leu242=) single nucleotide variant not provided [RCV001483097] Chr1:216365013 [GRCh38]
Chr1:216538355 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6846A>G (p.Leu2282=) single nucleotide variant not provided [RCV001504872] Chr1:215970736 [GRCh38]
Chr1:216144078 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9951C>A (p.Arg3317=) single nucleotide variant not provided [RCV001486487] Chr1:215798914 [GRCh38]
Chr1:215972256 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12242G>A (p.Arg4081Gln) single nucleotide variant not provided [RCV001474239] Chr1:215680201 [GRCh38]
Chr1:215853543 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8436C>G (p.Thr2812=) single nucleotide variant not provided [RCV001474358] Chr1:215878886 [GRCh38]
Chr1:216052228 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.129G>A (p.Val43=) single nucleotide variant not provided [RCV001452659] Chr1:216422208 [GRCh38]
Chr1:216595550 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12996A>C (p.Ala4332=) single nucleotide variant not provided [RCV001431861] Chr1:215674915 [GRCh38]
Chr1:215848257 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9027A>G (p.Ala3009=) single nucleotide variant not provided [RCV001406272] Chr1:215845852 [GRCh38]
Chr1:216019194 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8682-25dup duplication not provided [RCV001510311] Chr1:215867188..215867189 [GRCh38]
Chr1:216040530..216040531 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.204C>T (p.His68=) single nucleotide variant not provided [RCV001458795] Chr1:216422133 [GRCh38]
Chr1:216595475 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5646T>C (p.Gly1882=) single nucleotide variant not provided [RCV001498283] Chr1:216073227 [GRCh38]
Chr1:216246569 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12483T>A (p.Pro4161=) single nucleotide variant not provided [RCV001480200] Chr1:215675428 [GRCh38]
Chr1:215848770 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15213A>G (p.Pro5071=) single nucleotide variant not provided [RCV001488568] Chr1:215634543 [GRCh38]
Chr1:215807885 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3129T>C (p.Asp1043=) single nucleotide variant not provided [RCV001471335] Chr1:216217415 [GRCh38]
Chr1:216390757 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1440A>G (p.Val480=) single nucleotide variant not provided [RCV001458923] Chr1:216323584 [GRCh38]
Chr1:216496926 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9813G>A (p.Met3271Ile) single nucleotide variant not provided [RCV001453025] Chr1:215799052 [GRCh38]
Chr1:215972394 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9639G>A (p.Pro3213=) single nucleotide variant not provided [RCV001498979] Chr1:215813836 [GRCh38]
Chr1:215987178 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11478T>C (p.His3826=) single nucleotide variant not provided [RCV001499038] Chr1:215743247 [GRCh38]
Chr1:215916589 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7118del (p.Pro2373fs) deletion not provided [RCV001388784] Chr1:215965319 [GRCh38]
Chr1:216138661 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3747T>C (p.Pro1249=) single nucleotide variant not provided [RCV001432126] Chr1:216199691 [GRCh38]
Chr1:216373033 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14803C>A (p.Arg4935=) single nucleotide variant not provided [RCV001476187] Chr1:215640723 [GRCh38]
Chr1:215814065 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15045T>C (p.Thr5015=) single nucleotide variant not provided [RCV001476262] Chr1:215639162 [GRCh38]
Chr1:215812504 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15510C>T (p.Asn5170=) single nucleotide variant not provided [RCV001453670] Chr1:215628823 [GRCh38]
Chr1:215802165 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7056T>C (p.Pro2352=) single nucleotide variant not provided [RCV001480270] Chr1:215965381 [GRCh38]
Chr1:216138723 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5788C>A (p.Arg1930=) single nucleotide variant not provided [RCV001500424] Chr1:216072958 [GRCh38]
Chr1:216246300 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1550+10T>A single nucleotide variant not provided [RCV001455784] Chr1:216323464 [GRCh38]
Chr1:216496806 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11288A>G (p.Tyr3763Cys) single nucleotide variant not provided [RCV001481933] Chr1:215758696 [GRCh38]
Chr1:215932038 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.546A>G (p.Lys182=) single nucleotide variant not provided [RCV001502132] Chr1:216418619 [GRCh38]
Chr1:216591961 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9624A>G (p.Glu3208=) single nucleotide variant not provided [RCV001466003] Chr1:215813851 [GRCh38]
Chr1:215987193 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7515G>A (p.Glu2505=) single nucleotide variant not provided [RCV001505104] Chr1:215900154 [GRCh38]
Chr1:216073496 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1989T>C (p.Asn663=) single nucleotide variant not provided [RCV001505167] Chr1:216251081 [GRCh38]
Chr1:216424423 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6786T>C (p.Thr2262=) single nucleotide variant not provided [RCV001434177] Chr1:215993039 [GRCh38]
Chr1:216166381 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2358G>A (p.Gly786=) single nucleotide variant not provided [RCV001434219] Chr1:216247036 [GRCh38]
Chr1:216420378 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9739+1G>C single nucleotide variant Usher syndrome type 2A [RCV001831375]|not provided [RCV001379985] Chr1:215813735 [GRCh38]
Chr1:215987077 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11389+14del deletion Retinitis pigmentosa 39 [RCV003446790]|Usher syndrome type 2A [RCV003446789]|not provided [RCV001512984] Chr1:215758581 [GRCh38]
Chr1:215931923 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4116C>T (p.Pro1372=) single nucleotide variant not provided [RCV001406638] Chr1:216196688 [GRCh38]
Chr1:216370030 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13230C>T (p.His4410=) single nucleotide variant not provided [RCV001476296] Chr1:215674681 [GRCh38]
Chr1:215848023 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2409C>T (p.Leu803=) single nucleotide variant not provided [RCV001496521] Chr1:216246985 [GRCh38]
Chr1:216420327 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11919T>C (p.Ala3973=) single nucleotide variant not provided [RCV001463188] Chr1:215728177 [GRCh38]
Chr1:215901519 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4836T>C (p.Ala1612=) single nucleotide variant not provided [RCV001399917] Chr1:216089062 [GRCh38]
Chr1:216262404 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14106A>G (p.Leu4702=) single nucleotide variant not provided [RCV001505241] Chr1:215670999 [GRCh38]
Chr1:215844341 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10585+3A>G single nucleotide variant not provided [RCV001376750] Chr1:215782735 [GRCh38]
Chr1:215956077 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1644+10A>G single nucleotide variant not provided [RCV001400037] Chr1:216321873 [GRCh38]
Chr1:216495215 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15519+8G>A single nucleotide variant not provided [RCV001427590] Chr1:215628806 [GRCh38]
Chr1:215802148 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14004G>A (p.Leu4668=) single nucleotide variant not provided [RCV001459376] Chr1:215671101 [GRCh38]
Chr1:215844443 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6180G>A (p.Gln2060=) single nucleotide variant not provided [RCV001453513] Chr1:216046576 [GRCh38]
Chr1:216219918 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14865C>T (p.Phe4955=) single nucleotide variant not provided [RCV001454791] Chr1:215640661 [GRCh38]
Chr1:215814003 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15483A>G (p.Ser5161=) single nucleotide variant not provided [RCV001429849] Chr1:215628850 [GRCh38]
Chr1:215802192 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12027T>C (p.Pro4009=) single nucleotide variant not provided [RCV001406700] Chr1:215728069 [GRCh38]
Chr1:215901411 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10183-7G>A single nucleotide variant not provided [RCV001406727] Chr1:215786881 [GRCh38]
Chr1:215960223 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1617C>T (p.Ser539=) single nucleotide variant not provided [RCV001406748] Chr1:216321910 [GRCh38]
Chr1:216495252 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-8T>C single nucleotide variant not provided [RCV001451844] Chr1:215671301 [GRCh38]
Chr1:215844643 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5649T>C (p.Ala1883=) single nucleotide variant not provided [RCV001476533] Chr1:216073224 [GRCh38]
Chr1:216246566 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3090A>T (p.Ser1030=) single nucleotide variant not provided [RCV001498695] Chr1:216217454 [GRCh38]
Chr1:216390796 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8845+10C>T single nucleotide variant not provided [RCV001500684] Chr1:215866997 [GRCh38]
Chr1:216040339 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9243T>G (p.Thr3081=) single nucleotide variant not provided [RCV001500751] Chr1:215844309 [GRCh38]
Chr1:216017651 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9372-8T>C single nucleotide variant not provided [RCV001423485] Chr1:215817203 [GRCh38]
Chr1:215990545 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4837dup (p.Ile1613fs) duplication not provided [RCV001383678] Chr1:216089060..216089061 [GRCh38]
Chr1:216262402..216262403 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7791G>A (p.Lys2597=) single nucleotide variant not provided [RCV001415856] Chr1:215888858 [GRCh38]
Chr1:216062200 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9897T>C (p.Ile3299=) single nucleotide variant not provided [RCV001423640] Chr1:215798968 [GRCh38]
Chr1:215972310 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14877C>G (p.Gly4959=) single nucleotide variant not provided [RCV001436528] Chr1:215640649 [GRCh38]
Chr1:215813991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1254T>C (p.Asn418=) single nucleotide variant not provided [RCV001483501] Chr1:216324242 [GRCh38]
Chr1:216497584 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14664G>T (p.Thr4888=) single nucleotide variant not provided [RCV001415946] Chr1:215647649 [GRCh38]
Chr1:215820991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14343+1G>A single nucleotide variant not provided [RCV001378756] Chr1:215650591 [GRCh38]
Chr1:215823933 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11487C>T (p.Thr3829=) single nucleotide variant not provided [RCV001420035] Chr1:215743238 [GRCh38]
Chr1:215916580 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10869_10871del (p.Tyr3623_Gln3624delinsTer) deletion not provided [RCV001382095] Chr1:215779911..215779913 [GRCh38]
Chr1:215953253..215953255 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5573-13_5573-10del deletion not provided [RCV001429933] Chr1:216073310..216073313 [GRCh38]
Chr1:216246652..216246655 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2367C>T (p.Val789=) single nucleotide variant not provided [RCV001476547] Chr1:216247027 [GRCh38]
Chr1:216420369 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14244T>C (p.Ser4748=) single nucleotide variant not provided [RCV001478855] Chr1:215650691 [GRCh38]
Chr1:215824033 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7896G>A (p.Leu2632=) single nucleotide variant not provided [RCV001478869] Chr1:215888753 [GRCh38]
Chr1:216062095 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11549-6_11549-5del deletion not provided [RCV001514966] Chr1:215741542..215741543 [GRCh38]
Chr1:215914884..215914885 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10388-5T>C single nucleotide variant not provided [RCV001434651] Chr1:215782940 [GRCh38]
Chr1:215956282 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7314G>C (p.Val2438=) single nucleotide variant not provided [RCV001417994] Chr1:215900892 [GRCh38]
Chr1:216074234 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12315C>T (p.Asp4105=) single nucleotide variant not provided [RCV001521810] Chr1:215675596 [GRCh38]
Chr1:215848938 [GRCh37]
Chr1:1q41
benign
NC_000001.10:g.(?_216591882)_216592022del deletion not provided [RCV001377014]   likely pathogenic
NM_206933.4(USH2A):c.12021C>T (p.Asp4007=) single nucleotide variant not provided [RCV001423953] Chr1:215728075 [GRCh38]
Chr1:215901417 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter) single nucleotide variant Usher syndrome type 2A [RCV001831392]|not provided [RCV001385869] Chr1:215634548 [GRCh38]
Chr1:215807890 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12318G>C (p.Gly4106=) single nucleotide variant not provided [RCV001438714] Chr1:215675593 [GRCh38]
Chr1:215848935 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4251+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV001376344]|not provided [RCV001389192] Chr1:216196552 [GRCh38]
Chr1:216369894 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8640T>C (p.Tyr2880=) single nucleotide variant not provided [RCV001398064] Chr1:215877799 [GRCh38]
Chr1:216051141 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.652-8del deletion not provided [RCV001423616] Chr1:216365093 [GRCh38]
Chr1:216538435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8946T>C (p.His2982=) single nucleotide variant not provided [RCV001400031] Chr1:215845933 [GRCh38]
Chr1:216019275 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216246221)_(216270565_?)del deletion not provided [RCV001385478] Chr1:216246221..216270565 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1116A>G (p.Ser372=) single nucleotide variant not provided [RCV001401790] Chr1:216325332 [GRCh38]
Chr1:216498674 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7174G>T (p.Glu2392Ter) single nucleotide variant not provided [RCV001382288] Chr1:215934742 [GRCh38]
Chr1:216108084 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216107948)_(216138831_?)dup duplication not provided [RCV001377012] Chr1:216107948..216138831 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4377A>G (p.Ala1459=) single nucleotide variant not provided [RCV001503855] Chr1:216190242 [GRCh38]
Chr1:216363584 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2733C>T (p.Thr911=) single nucleotide variant not provided [RCV001398476] Chr1:216246661 [GRCh38]
Chr1:216420003 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216049419)_216051126del deletion not provided [RCV001377015]   likely pathogenic
NM_206933.4(USH2A):c.13686C>A (p.Ile4562=) single nucleotide variant not provided [RCV001418114] Chr1:215674225 [GRCh38]
Chr1:215847567 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.848+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003473912]|not provided [RCV001378809] Chr1:216327590 [GRCh38]
Chr1:216500932 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216495225)_(216500996_?)del deletion not provided [RCV001380220] Chr1:216495225..216500996 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7857A>G (p.Thr2619=) single nucleotide variant not provided [RCV001430235] Chr1:215888792 [GRCh38]
Chr1:216062134 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12375C>T (p.Phe4125=) single nucleotide variant not provided [RCV001441097] Chr1:215675536 [GRCh38]
Chr1:215848878 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13503A>G (p.Pro4501=) single nucleotide variant not provided [RCV001404765] Chr1:215674408 [GRCh38]
Chr1:215847750 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13767T>C (p.Phe4589=) single nucleotide variant not provided [RCV001404768] Chr1:215674144 [GRCh38]
Chr1:215847486 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1890A>G (p.Ala630=) single nucleotide variant not provided [RCV001443820] Chr1:216289361 [GRCh38]
Chr1:216462703 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14727G>T (p.Val4909=) single nucleotide variant not provided [RCV001443828] Chr1:215647586 [GRCh38]
Chr1:215820928 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11814C>T (p.Tyr3938=) single nucleotide variant not provided [RCV001432909] Chr1:215728282 [GRCh38]
Chr1:215901624 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5385T>C (p.Tyr1795=) single nucleotide variant not provided [RCV001452206] Chr1:216078276 [GRCh38]
Chr1:216251618 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9726T>C (p.Ala3242=) single nucleotide variant not provided [RCV001496960] Chr1:215813749 [GRCh38]
Chr1:215987091 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10746T>A (p.Val3582=) single nucleotide variant not provided [RCV001456269] Chr1:215780036 [GRCh38]
Chr1:215953378 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4086del (p.Val1363fs) deletion not provided [RCV001386054] Chr1:216196718 [GRCh38]
Chr1:216370060 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13119T>C (p.Asn4373=) single nucleotide variant not provided [RCV001503944] Chr1:215674792 [GRCh38]
Chr1:215848134 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+8del deletion not provided [RCV001522048] Chr1:215798899 [GRCh38]
Chr1:215972241 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9195A>G (p.Gly3065=) single nucleotide variant not provided [RCV001416398] Chr1:215844357 [GRCh38]
Chr1:216017699 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6956del (p.Leu2319fs) deletion Retinitis pigmentosa 39 [RCV003462996]|not provided [RCV001384277] Chr1:215970626 [GRCh38]
Chr1:216143968 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6958-17T>A single nucleotide variant not provided [RCV001416459] Chr1:215965496 [GRCh38]
Chr1:216138838 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14403C>T (p.Tyr4801=) single nucleotide variant not provided [RCV001400833] Chr1:215648707 [GRCh38]
Chr1:215822049 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13791C>T (p.Asn4597=) single nucleotide variant not provided [RCV001400900] Chr1:215674120 [GRCh38]
Chr1:215847462 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5776+7T>C single nucleotide variant not provided [RCV001418722] Chr1:216073090 [GRCh38]
Chr1:216246432 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4530A>C (p.Pro1510=) single nucleotide variant not provided [RCV001434783]|not specified [RCV001701161] Chr1:216175349 [GRCh38]
Chr1:216348691 [GRCh37]
Chr1:1q41
benign|likely benign
NM_206933.4(USH2A):c.5478C>T (p.Ser1826=) single nucleotide variant not provided [RCV001432971] Chr1:216078183 [GRCh38]
Chr1:216251525 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2994-4del deletion not provided [RCV001494049] Chr1:216217554 [GRCh38]
Chr1:216390896 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11787A>G (p.Gly3929=) single nucleotide variant not provided [RCV001479318] Chr1:215728309 [GRCh38]
Chr1:215901651 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.801C>T (p.Val267=) single nucleotide variant not provided [RCV001479335] Chr1:216327638 [GRCh38]
Chr1:216500980 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6126G>A (p.Glu2042=) single nucleotide variant not provided [RCV001418577] Chr1:216048571 [GRCh38]
Chr1:216221913 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3177G>T (p.Pro1059=) single nucleotide variant not provided [RCV001505600] Chr1:216207412 [GRCh38]
Chr1:216380754 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3396T>C (p.Gly1132=) single nucleotide variant not provided [RCV001398696] Chr1:216200042 [GRCh38]
Chr1:216373384 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13215C>A (p.Cys4405Ter) single nucleotide variant not provided [RCV001386343] Chr1:215674696 [GRCh38]
Chr1:215848038 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14946C>T (p.Tyr4982=) single nucleotide variant not provided [RCV001471830] Chr1:215640580 [GRCh38]
Chr1:215813922 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.579T>G (p.Gly193=) single nucleotide variant not provided [RCV001398554] Chr1:216418586 [GRCh38]
Chr1:216591928 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5274C>T (p.Asn1758=) single nucleotide variant not provided [RCV001416362] Chr1:216083480 [GRCh38]
Chr1:216256822 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7950C>A (p.Pro2650=) single nucleotide variant not provided [RCV001494634] Chr1:215888699 [GRCh38]
Chr1:216062041 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1638A>C (p.Gly546=) single nucleotide variant not provided [RCV001495000] Chr1:216321889 [GRCh38]
Chr1:216495231 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11313A>G (p.Thr3771=) single nucleotide variant not provided [RCV001497270] Chr1:215758671 [GRCh38]
Chr1:215932013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11112G>A (p.Leu3704=) single nucleotide variant not provided [RCV001454895] Chr1:215759779 [GRCh38]
Chr1:215933121 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.423T>G (p.Ser141=) single nucleotide variant not provided [RCV001501212] Chr1:216421914 [GRCh38]
Chr1:216595256 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8886T>C (p.Leu2962=) single nucleotide variant not provided [RCV001398996] Chr1:215845993 [GRCh38]
Chr1:216019335 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8220C>T (p.Val2740=) single nucleotide variant not provided [RCV001399017] Chr1:215888429 [GRCh38]
Chr1:216061771 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2525dup (p.Leu843fs) duplication Retinitis pigmentosa 39 [RCV003462998]|not provided [RCV001384599] Chr1:216246868..216246869 [GRCh38]
Chr1:216420210..216420211 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216372959)_(216373473_?)del deletion not provided [RCV001379535] Chr1:216372959..216373473 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216108028)_(216110946_?)del deletion not provided [RCV001379536] Chr1:216108028..216110946 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_215967783)_(215972477_?)del deletion not provided [RCV001379537] Chr1:215967783..215972477 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_215807801)_(215808045_?)del deletion not provided [RCV001379538] Chr1:215807801..215808045 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4343A>G (p.Asn1448Ser) single nucleotide variant not provided [RCV001489303] Chr1:216190276 [GRCh38]
Chr1:216363618 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15199del (p.Ile5067fs) deletion Usher syndrome type 2A [RCV001831387]|not provided [RCV001384300] Chr1:215634557 [GRCh38]
Chr1:215807899 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6163+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003469625]|Usher syndrome type 2A [RCV001826127]|not provided [RCV001377391] Chr1:216048533 [GRCh38]
Chr1:216221875 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4886-7T>C single nucleotide variant not provided [RCV001426346] Chr1:216086827 [GRCh38]
Chr1:216260169 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9462T>C (p.Ala3154=) single nucleotide variant not provided [RCV001426362] Chr1:215817105 [GRCh38]
Chr1:215990447 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13437T>C (p.Leu4479=) single nucleotide variant not provided [RCV001428114] Chr1:215674474 [GRCh38]
Chr1:215847816 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3060G>A (p.Gln1020=) single nucleotide variant not provided [RCV001402563] Chr1:216217484 [GRCh38]
Chr1:216390826 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15520-7T>G single nucleotide variant not provided [RCV001402564] Chr1:215625877 [GRCh38]
Chr1:215799219 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1281T>C (p.Asn427=) single nucleotide variant not provided [RCV001495165] Chr1:216324215 [GRCh38]
Chr1:216497557 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11097A>G (p.Glu3699=) single nucleotide variant not provided [RCV001477119] Chr1:215759794 [GRCh38]
Chr1:215933136 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10236T>C (p.His3412=) single nucleotide variant not provided [RCV001452578] Chr1:215786821 [GRCh38]
Chr1:215960163 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10026A>C (p.Gly3342=) single nucleotide variant not provided [RCV001462326] Chr1:215790215 [GRCh38]
Chr1:215963557 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1437C>T (p.Phe479=) single nucleotide variant not provided [RCV001456574] Chr1:216323587 [GRCh38]
Chr1:216496929 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9900G>A (p.Val3300=) single nucleotide variant not provided [RCV001482515] Chr1:215798965 [GRCh38]
Chr1:215972307 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10182+18T>C single nucleotide variant not provided [RCV001485540] Chr1:215790041 [GRCh38]
Chr1:215963383 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14292C>T (p.Ile4764=) single nucleotide variant not provided [RCV001427089] Chr1:215650643 [GRCh38]
Chr1:215823985 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12810G>A (p.Val4270=) single nucleotide variant not provided [RCV001427110] Chr1:215675101 [GRCh38]
Chr1:215848443 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13101C>T (p.Val4367=) single nucleotide variant not provided [RCV001427111] Chr1:215674810 [GRCh38]
Chr1:215848152 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15297+14G>A single nucleotide variant not provided [RCV001472506] Chr1:215634445 [GRCh38]
Chr1:215807787 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4885+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003462952]|not provided [RCV001377634] Chr1:216089012 [GRCh38]
Chr1:216262354 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14601C>T (p.His4867=) single nucleotide variant not provided [RCV001437524] Chr1:215647712 [GRCh38]
Chr1:215821054 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15567A>G (p.Ser5189=) single nucleotide variant not provided [RCV001426705] Chr1:215625823 [GRCh38]
Chr1:215799165 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5246T>G (p.Leu1749Ter) single nucleotide variant not provided [RCV001380739] Chr1:216083508 [GRCh38]
Chr1:216256850 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15031del (p.Tyr5011fs) deletion not provided [RCV001380765] Chr1:215639176 [GRCh38]
Chr1:215812518 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14091del (p.Phe4697fs) deletion not provided [RCV001380768] Chr1:215671014 [GRCh38]
Chr1:215844356 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2196A>G (p.Gly732=) single nucleotide variant not provided [RCV001495418] Chr1:216247198 [GRCh38]
Chr1:216420540 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5168-10A>G single nucleotide variant not provided [RCV001455126] Chr1:216083596 [GRCh38]
Chr1:216256938 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12300C>G (p.Tyr4100Ter) single nucleotide variant not provided [RCV001384783] Chr1:215675611 [GRCh38]
Chr1:215848953 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9536T>C (p.Ile3179Thr) single nucleotide variant not provided [RCV001424856] Chr1:215817031 [GRCh38]
Chr1:215990373 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4545G>T (p.Thr1515=) single nucleotide variant not provided [RCV001482547] Chr1:216175334 [GRCh38]
Chr1:216348676 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9006A>G (p.Gly3002=) single nucleotide variant not provided [RCV001482554] Chr1:215845873 [GRCh38]
Chr1:216019215 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10833T>C (p.Ser3611=) single nucleotide variant not provided [RCV001504387] Chr1:215779949 [GRCh38]
Chr1:215953291 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10003A>C (p.Ile3335Leu) single nucleotide variant not provided [RCV001424907] Chr1:215790238 [GRCh38]
Chr1:215963580 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2882A>C (p.His961Pro) single nucleotide variant not provided [RCV001755112] Chr1:216232064 [GRCh38]
Chr1:216405406 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9311C>T (p.Thr3104Ile) single nucleotide variant not provided [RCV003108473] Chr1:215838051 [GRCh38]
Chr1:216011393 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs) deletion Usher syndrome [RCV002238688] Chr1:215671089..215671095 [GRCh38]
Chr1:215844431..215844437 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2309A>G (p.Lys770Arg) single nucleotide variant not provided [RCV002255752] Chr1:216247085 [GRCh38]
Chr1:216420427 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15361G>C (p.Ala5121Pro) single nucleotide variant not provided [RCV003107004] Chr1:215628972 [GRCh38]
Chr1:215802314 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10194G>T (p.Glu3398Asp) single nucleotide variant not provided [RCV003109047] Chr1:215786863 [GRCh38]
Chr1:215960205 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12706T>A (p.Cys4236Ser) single nucleotide variant not provided [RCV001726782] Chr1:215675205 [GRCh38]
Chr1:215848547 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.434T>A (p.Met145Lys) single nucleotide variant not specified [RCV002248930] Chr1:216421903 [GRCh38]
Chr1:216595245 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6621C>A (p.Tyr2207Ter) single nucleotide variant not provided [RCV001730376] Chr1:215998923 [GRCh38]
Chr1:216172265 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8053G>A (p.Asp2685Asn) single nucleotide variant not provided [RCV001756274] Chr1:215888596 [GRCh38]
Chr1:216061938 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2149T>C (p.Cys717Arg) single nucleotide variant not provided [RCV001756713] Chr1:216250921 [GRCh38]
Chr1:216424263 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8723_8724del (p.Val2908fs) microsatellite Retinitis pigmentosa 39 [RCV003474015]|not provided [RCV001730392] Chr1:215867128..215867129 [GRCh38]
Chr1:216040470..216040471 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451928]|Usher syndrome type 2A [RCV003451927]|not provided [RCV001779897] Chr1:215675352 [GRCh38]
Chr1:215848694 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7139_7140del (p.Leu2380fs) deletion not provided [RCV002244460] Chr1:215934776..215934777 [GRCh38]
Chr1:216108118..216108119 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(215916678_215931936)_(215940131_215953184)dup duplication not specified [RCV002238689] Chr1:215931936..215940131 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6416C>T (p.Ala2139Val) single nucleotide variant not provided [RCV001763082] Chr1:216000472 [GRCh38]
Chr1:216173814 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003451866]|Usher syndrome type 2A [RCV003451865]|not provided [RCV001733053] Chr1:216422063 [GRCh38]
Chr1:216595405 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003451874]|Usher syndrome type 2A [RCV002477926]|Usher syndrome type 2A [RCV003451873]|not provided [RCV001757852] Chr1:215647681 [GRCh38]
Chr1:215821023 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4396+9G>A single nucleotide variant not provided [RCV002184952] Chr1:216190214 [GRCh38]
Chr1:216363556 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8283G>C (p.Met2761Ile) single nucleotide variant not provided [RCV001754399] Chr1:215879039 [GRCh38]
Chr1:216052381 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11669C>A (p.Pro3890His) single nucleotide variant not provided [RCV001770608] Chr1:215741417 [GRCh38]
Chr1:215914759 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003451868]|Usher syndrome type 2A [RCV003451867]|not provided [RCV001733350] Chr1:216078190 [GRCh38]
Chr1:216251532 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14050T>C (p.Ser4684Pro) single nucleotide variant not provided [RCV001767084] Chr1:215671055 [GRCh38]
Chr1:215844397 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5390A>G (p.Asn1797Ser) single nucleotide variant not provided [RCV001772646] Chr1:216078271 [GRCh38]
Chr1:216251613 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13296del (p.Ser4432fs) deletion not provided [RCV001785121] Chr1:215674615 [GRCh38]
Chr1:215847957 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003451896]|Usher syndrome type 2A [RCV003451895]|not provided [RCV001752415] Chr1:215674109 [GRCh38]
Chr1:215847451 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003451935]|Usher syndrome type 2A [RCV002478020]|Usher syndrome type 2A [RCV003451934]|not provided [RCV001786960] Chr1:215965337 [GRCh38]
Chr1:216138679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4251+3A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446919]|Usher syndrome type 2A [RCV003446918]|not provided [RCV001787683] Chr1:216196550 [GRCh38]
Chr1:216369892 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4097T>C (p.Ile1366Thr) single nucleotide variant not provided [RCV001768490] Chr1:216196707 [GRCh38]
Chr1:216370049 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4100C>A (p.Pro1367His) single nucleotide variant not provided [RCV001774569] Chr1:216196704 [GRCh38]
Chr1:216370046 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.199T>G (p.Cys67Gly) single nucleotide variant Usher syndrome type 2A [RCV001787431] Chr1:216422138 [GRCh38]
Chr1:216595480 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10754C>T (p.Thr3585Ile) single nucleotide variant not provided [RCV001767259] Chr1:215780028 [GRCh38]
Chr1:215953370 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4604A>G (p.His1535Arg) single nucleotide variant not provided [RCV001767391] Chr1:216175275 [GRCh38]
Chr1:216348617 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003451933]|Usher syndrome type 2A [RCV003451932]|not provided [RCV001786059] Chr1:216246602 [GRCh38]
Chr1:216419944 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451887]|Usher syndrome type 2A [RCV003451886]|not provided [RCV001768885] Chr1:215680351 [GRCh38]
Chr1:215853693 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2753G>T (p.Gly918Val) single nucleotide variant not provided [RCV001752662] Chr1:216246641 [GRCh38]
Chr1:216419983 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6436G>T (p.Val2146Leu) single nucleotide variant not provided [RCV001769414] Chr1:216000452 [GRCh38]
Chr1:216173794 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451901]|Usher syndrome type 2A [RCV003451900]|not provided [RCV001752820] Chr1:215675093 [GRCh38]
Chr1:215848435 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003451906]|Usher syndrome type 2A [RCV003451905]|not provided [RCV001765842] Chr1:215879004 [GRCh38]
Chr1:216052346 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003451908]|Usher syndrome type 2A [RCV003451907]|not provided [RCV001765938] Chr1:216084770 [GRCh38]
Chr1:216258112 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7907C>T (p.Thr2636Ile) single nucleotide variant not provided [RCV001753942] Chr1:215888742 [GRCh38]
Chr1:216062084 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003451903]|Usher syndrome type 2A [RCV003451902]|not provided [RCV001761488] Chr1:215634587 [GRCh38]
Chr1:215807929 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1888del (p.Ala630fs) deletion Usher syndrome [RCV001733414] Chr1:216289363 [GRCh38]
Chr1:216462705 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1750del (p.Cys584fs) deletion not provided [RCV001785120] Chr1:216292265 [GRCh38]
Chr1:216465607 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.361C>T (p.His121Tyr) single nucleotide variant not provided [RCV001762801] Chr1:216421976 [GRCh38]
Chr1:216595318 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5299A>G (p.Met1767Val) single nucleotide variant not provided [RCV001763362] Chr1:216078362 [GRCh38]
Chr1:216251704 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15465dup (p.Val5156fs) duplication Retinitis pigmentosa 39 [RCV003470920]|not provided [RCV002034664]|not specified [RCV001797963] Chr1:215628867..215628868 [GRCh38]
Chr1:215802209..215802210 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2621T>C (p.Val874Ala) single nucleotide variant not provided [RCV001757243] Chr1:216246773 [GRCh38]
Chr1:216420115 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5131G>A (p.Ala1711Thr) single nucleotide variant not provided [RCV001794725] Chr1:216084734 [GRCh38]
Chr1:216258076 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.11390-90_11390-89insACACAC microsatellite not provided [RCV001797451] Chr1:215743424..215743425 [GRCh38]
Chr1:215916766..215916767 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003451876]|Usher syndrome type 2A [RCV003451875]|not provided [RCV001757935] Chr1:216190339 [GRCh38]
Chr1:216363681 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003451894]|Usher syndrome type 2A [RCV003451893]|not provided [RCV001758749] Chr1:215782042 [GRCh38]
Chr1:215955384 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13792C>T (p.Gln4598Ter) single nucleotide variant Ear malformation [RCV001814328] Chr1:215674119 [GRCh38]
Chr1:215847461 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile) single nucleotide variant not provided [RCV002542365]|not specified [RCV001806755] Chr1:216190234 [GRCh38]
Chr1:216363576 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.13018G>C (p.Gly4340Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV001808150] Chr1:215674893 [GRCh38]
Chr1:215848235 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10585+1G>A single nucleotide variant Usher syndrome type 2A [RCV001808228]|not provided [RCV002541469] Chr1:215782737 [GRCh38]
Chr1:215956079 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) single nucleotide variant Usher syndrome type 2A [RCV001806687]|not provided [RCV001869488] Chr1:215877821 [GRCh38]
Chr1:216051163 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9688G>T (p.Ala3230Ser) single nucleotide variant not provided [RCV001822018] Chr1:215813787 [GRCh38]
Chr1:215987129 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9945C>A (p.Tyr3315Ter) single nucleotide variant Ear malformation [RCV001814553] Chr1:215798920 [GRCh38]
Chr1:215972262 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2944dup (p.Cys982fs) duplication Ear malformation [RCV001814333] Chr1:216232001..216232002 [GRCh38]
Chr1:216405343..216405344 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13599del (p.Met4535fs) deletion Usher syndrome type 2A [RCV001808262]|not provided [RCV001869587] Chr1:215674312 [GRCh38]
Chr1:215847654 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter) single nucleotide variant Usher syndrome [RCV002236189]|Usher syndrome type 2A [RCV003452179]|not provided [RCV001929149] Chr1:215817127 [GRCh38]
Chr1:215990469 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4561C>T (p.Arg1521Cys) single nucleotide variant not provided [RCV001874475] Chr1:216175318 [GRCh38]
Chr1:216348660 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11326T>C (p.Tyr3776His) single nucleotide variant not provided [RCV001929871] Chr1:215758658 [GRCh38]
Chr1:215932000 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5A>G (p.Asn2Ser) single nucleotide variant not provided [RCV001986860] Chr1:216422332 [GRCh38]
Chr1:216595674 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4001A>G (p.Lys1334Arg) single nucleotide variant not provided [RCV001894906] Chr1:216198395 [GRCh38]
Chr1:216371737 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7376C>G (p.Ala2459Gly) single nucleotide variant not provided [RCV002025903] Chr1:215900830 [GRCh38]
Chr1:216074172 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13176A>G (p.Arg4392=) single nucleotide variant not provided [RCV002003662] Chr1:215674735 [GRCh38]
Chr1:215848077 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr) single nucleotide variant Usher syndrome type 2A [RCV002486640]|not provided [RCV002022445] Chr1:216190315 [GRCh38]
Chr1:216363657 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.7816A>G (p.Lys2606Glu) single nucleotide variant not provided [RCV002008210] Chr1:215888833 [GRCh38]
Chr1:216062175 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15074G>C (p.Gly5025Ala) single nucleotide variant not provided [RCV001970809] Chr1:215634682 [GRCh38]
Chr1:215808024 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1391G>T (p.Arg464Leu) single nucleotide variant not provided [RCV001949794] Chr1:216323633 [GRCh38]
Chr1:216496975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14249A>G (p.Gln4750Arg) single nucleotide variant not provided [RCV001929157] Chr1:215650686 [GRCh38]
Chr1:215824028 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14969-2A>G single nucleotide variant Usher syndrome [RCV002241370]|Usher syndrome type 2A [RCV001822896] Chr1:215639240 [GRCh38]
Chr1:215812582 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9713_9714insA (p.Gly3239fs) insertion not provided [RCV001896379] Chr1:215813761..215813762 [GRCh38]
Chr1:215987103..215987104 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12306C>G (p.Ile4102Met) single nucleotide variant not provided [RCV001970649] Chr1:215675605 [GRCh38]
Chr1:215848947 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003452028]|Usher syndrome type 2A [RCV003452027]|not provided [RCV001929994] Chr1:215998955 [GRCh38]
Chr1:216172297 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5339C>T (p.Thr1780Ile) single nucleotide variant not provided [RCV002025909] Chr1:216078322 [GRCh38]
Chr1:216251664 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4757A>G (p.Gln1586Arg) single nucleotide variant not provided [RCV001966076] Chr1:216097084 [GRCh38]
Chr1:216270426 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12428C>T (p.Ser4143Leu) single nucleotide variant not provided [RCV001968366] Chr1:215675483 [GRCh38]
Chr1:215848825 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11279G>C (p.Ser3760Thr) single nucleotide variant Usher syndrome type 2A [RCV001822938] Chr1:215758705 [GRCh38]
Chr1:215932047 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003452140]|Usher syndrome type 2A [RCV002490253]|Usher syndrome type 2A [RCV003452139]|not provided [RCV001913627] Chr1:216073165 [GRCh38]
Chr1:216246507 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216061748)_(216270575_?)del deletion not provided [RCV001969873] Chr1:216061748..216270575 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4789G>T (p.Asp1597Tyr) single nucleotide variant not provided [RCV002044896] Chr1:216089109 [GRCh38]
Chr1:216262451 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837015] Chr1:215199578..223035427 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8464C>G (p.Gln2822Glu) single nucleotide variant not provided [RCV001896386] Chr1:215878858 [GRCh38]
Chr1:216052200 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8714dup (p.His2905fs) duplication Usher syndrome type 2A [RCV001823266] Chr1:215867137..215867138 [GRCh38]
Chr1:216040479..216040480 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6380G>A (p.Gly2127Asp) single nucleotide variant not provided [RCV001895015] Chr1:216000508 [GRCh38]
Chr1:216173850 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1993A>G (p.Lys665Glu) single nucleotide variant not provided [RCV002008259] Chr1:216251077 [GRCh38]
Chr1:216424419 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4325T>C (p.Phe1442Ser) single nucleotide variant not provided [RCV002044917] Chr1:216190294 [GRCh38]
Chr1:216363636 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14654C>A (p.Thr4885Lys) single nucleotide variant not provided [RCV001914877] Chr1:215647659 [GRCh38]
Chr1:215821001 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15373C>G (p.Arg5125Gly) single nucleotide variant not provided [RCV001988302] Chr1:215628960 [GRCh38]
Chr1:215802302 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7451+2T>A single nucleotide variant not provided [RCV002025855] Chr1:215900753 [GRCh38]
Chr1:216074095 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003471017]|not provided [RCV001893744] Chr1:215900144 [GRCh38]
Chr1:216073486 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.11549-4_11549del deletion not provided [RCV001914667] Chr1:215741537..215741541 [GRCh38]
Chr1:215914879..215914883 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.577G>A (p.Gly193Ser) single nucleotide variant not provided [RCV001988137] Chr1:216418588 [GRCh38]
Chr1:216591930 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.785-1G>A single nucleotide variant not provided [RCV001971415] Chr1:216327655 [GRCh38]
Chr1:216500997 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5990C>T (p.Thr1997Ile) single nucleotide variant not provided [RCV002009244] Chr1:216070160 [GRCh38]
Chr1:216243502 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15277C>G (p.Pro5093Ala) single nucleotide variant not provided [RCV001945284] Chr1:215634479 [GRCh38]
Chr1:215807821 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9740-2A>G single nucleotide variant not provided [RCV001983463] Chr1:215799127 [GRCh38]
Chr1:215972469 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003453890]|Usher syndrome type 2A [RCV002484819]|Usher syndrome type 2A [RCV003453889]|not provided [RCV001985733] Chr1:215934678 [GRCh38]
Chr1:216108020 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9488del (p.Gln3163fs) deletion not provided [RCV002044721] Chr1:215817079 [GRCh38]
Chr1:215990421 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1995G>C (p.Lys665Asn) single nucleotide variant not provided [RCV001914683] Chr1:216251075 [GRCh38]
Chr1:216424417 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.357C>A (p.Asn119Lys) single nucleotide variant not provided [RCV001988149] Chr1:216421980 [GRCh38]
Chr1:216595322 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1329-4A>G single nucleotide variant not provided [RCV002025614] Chr1:216323699 [GRCh38]
Chr1:216497041 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3464G>A (p.Ser1155Asn) single nucleotide variant not provided [RCV001915575] Chr1:216199974 [GRCh38]
Chr1:216373316 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216138639)_(216405498_?)dup duplication not provided [RCV001910289] Chr1:216138639..216405498 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15359G>A (p.Ser5120Asn) single nucleotide variant not provided [RCV001928929] Chr1:215628974 [GRCh38]
Chr1:215802316 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10346A>C (p.Glu3449Ala) single nucleotide variant not provided [RCV002008285] Chr1:215786711 [GRCh38]
Chr1:215960053 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003475270]|not provided [RCV002008565] Chr1:215650649 [GRCh38]
Chr1:215823991 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.987_988insTAA (p.Asn330Ter) insertion Retinitis pigmentosa 39 [RCV003475177]|not provided [RCV001929581] Chr1:216325460..216325461 [GRCh38]
Chr1:216498802..216498803 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14065A>G (p.Ile4689Val) single nucleotide variant not provided [RCV001864169] Chr1:215671040 [GRCh38]
Chr1:215844382 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6241G>A (p.Ala2081Thr) single nucleotide variant not provided [RCV001929960] Chr1:216046515 [GRCh38]
Chr1:216219857 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2878_2879del (p.Asn960fs) deletion not provided [RCV001950598] Chr1:216232067..216232068 [GRCh38]
Chr1:216405409..216405410 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14838_14839del (p.Val4949fs) deletion not provided [RCV001945553] Chr1:215640687..215640688 [GRCh38]
Chr1:215814029..215814030 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10748C>T (p.Ala3583Val) single nucleotide variant not provided [RCV002042092] Chr1:215780034 [GRCh38]
Chr1:215953376 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.400A>G (p.Ser134Gly) single nucleotide variant not provided [RCV002044734] Chr1:216421937 [GRCh38]
Chr1:216595279 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2167+1G>A single nucleotide variant not provided [RCV002025461] Chr1:216250902 [GRCh38]
Chr1:216424244 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14776A>C (p.Thr4926Pro) single nucleotide variant not provided [RCV002024035] Chr1:215647537 [GRCh38]
Chr1:215820879 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5929G>A (p.Glu1977Lys) single nucleotide variant not provided [RCV002002220] Chr1:216070221 [GRCh38]
Chr1:216243563 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6233C>A (p.Pro2078His) single nucleotide variant not provided [RCV001985133] Chr1:216046523 [GRCh38]
Chr1:216219865 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13210del (p.Leu4404fs) deletion Retinitis pigmentosa 39 [RCV003464165]|not provided [RCV002044756] Chr1:215674701 [GRCh38]
Chr1:215848043 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1444G>A (p.Ala482Thr) single nucleotide variant not provided [RCV002008958] Chr1:216323580 [GRCh38]
Chr1:216496922 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1975G>A (p.Gly659Arg) single nucleotide variant not provided [RCV002023513] Chr1:216251095 [GRCh38]
Chr1:216424437 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2738del (p.Cys913fs) deletion not provided [RCV002002550] Chr1:216246656 [GRCh38]
Chr1:216419998 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10319T>C (p.Ile3440Thr) single nucleotide variant not provided [RCV002004391] Chr1:215786738 [GRCh38]
Chr1:215960080 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14528G>A (p.Arg4843Lys) single nucleotide variant not provided [RCV001949146] Chr1:215648582 [GRCh38]
Chr1:215821924 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2167+15A>G single nucleotide variant Usher syndrome type 2A [RCV002484545]|not provided [RCV001913997] Chr1:216250888 [GRCh38]
Chr1:216424230 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.14441G>T (p.Cys4814Phe) single nucleotide variant not provided [RCV002008613] Chr1:215648669 [GRCh38]
Chr1:215822011 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.3158-1G>A single nucleotide variant not provided [RCV002025634] Chr1:216207432 [GRCh38]
Chr1:216380774 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5195T>C (p.Phe1732Ser) single nucleotide variant not provided [RCV001895152] Chr1:216083559 [GRCh38]
Chr1:216256901 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6038G>T (p.Ser2013Ile) single nucleotide variant not provided [RCV001874023] Chr1:216070112 [GRCh38]
Chr1:216243454 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1909G>A (p.Val637Ile) single nucleotide variant not provided [RCV002002684] Chr1:216289342 [GRCh38]
Chr1:216462684 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8811C>A (p.Asn2937Lys) single nucleotide variant not provided [RCV001983835] Chr1:215867041 [GRCh38]
Chr1:216040383 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6377T>C (p.Val2126Ala) single nucleotide variant not provided [RCV001983869] Chr1:216000511 [GRCh38]
Chr1:216173853 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9538del (p.Cys3180fs) deletion Usher syndrome [RCV003389502]|Usher syndrome type 2A [RCV003452070]|not provided [RCV001911262] Chr1:215817029 [GRCh38]
Chr1:215990371 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7061G>C (p.Arg2354Pro) single nucleotide variant not provided [RCV002006822] Chr1:215965376 [GRCh38]
Chr1:216138718 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5167+1G>A single nucleotide variant not provided [RCV002007942] Chr1:216084697 [GRCh38]
Chr1:216258039 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9276A>C (p.Ile3092=) single nucleotide variant not provided [RCV001873989] Chr1:215838086 [GRCh38]
Chr1:216011428 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4237A>G (p.Met1413Val) single nucleotide variant not provided [RCV001896625] Chr1:216196567 [GRCh38]
Chr1:216369909 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1515A>G (p.Arg505=) single nucleotide variant not provided [RCV001928622] Chr1:216323509 [GRCh38]
Chr1:216496851 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2206C>T (p.Leu736Phe) single nucleotide variant not provided [RCV002045391] Chr1:216247188 [GRCh38]
Chr1:216420530 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15124_15125dup (p.Trp5042fs) microsatellite not provided [RCV001970220] Chr1:215634630..215634631 [GRCh38]
Chr1:215807972..215807973 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10199G>A (p.Arg3400Lys) single nucleotide variant not provided [RCV001890347] Chr1:215786858 [GRCh38]
Chr1:215960200 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1772A>G (p.Asp591Gly) single nucleotide variant not provided [RCV001908998] Chr1:216292243 [GRCh38]
Chr1:216465585 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2392G>A (p.Asp798Asn) single nucleotide variant not provided [RCV002041035] Chr1:216247002 [GRCh38]
Chr1:216420344 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10214C>A (p.Ala3405Glu) single nucleotide variant not provided [RCV002044443] Chr1:215786843 [GRCh38]
Chr1:215960185 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1685G>A (p.Arg562His) single nucleotide variant not provided [RCV001914790] Chr1:216292330 [GRCh38]
Chr1:216465672 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628-3C>G single nucleotide variant not provided [RCV001949968] Chr1:216097216 [GRCh38]
Chr1:216270558 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.262T>A (p.Cys88Ser) single nucleotide variant not provided [RCV001929986] Chr1:216422075 [GRCh38]
Chr1:216595417 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.4687C>G (p.Pro1563Ala) single nucleotide variant not provided [RCV001971637] Chr1:216097154 [GRCh38]
Chr1:216270496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4769dup (p.Glu1591fs) duplication not provided [RCV001890495] Chr1:216089128..216089129 [GRCh38]
Chr1:216262470..216262471 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003451970]|Usher syndrome type 2A [RCV002272503]|not provided [RCV002543339]|not specified [RCV001844780] Chr1:215844308 [GRCh38]
Chr1:216017650 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003464157]|not provided [RCV002543341]|not specified [RCV001844784] Chr1:215838103 [GRCh38]
Chr1:216011445 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.1573G>A (p.Asp525Asn) single nucleotide variant not provided [RCV002007120] Chr1:216321954 [GRCh38]
Chr1:216495296 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln) single nucleotide variant Inborn genetic diseases [RCV003167324]|Retinitis pigmentosa 39 [RCV003452187]|Usher syndrome type 2A [RCV003452186]|not provided [RCV001950147] Chr1:215965469 [GRCh38]
Chr1:216138811 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11617_11619del (p.Pro3873del) deletion not provided [RCV001915147] Chr1:215741467..215741469 [GRCh38]
Chr1:215914809..215914811 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13307C>G (p.Ser4436Cys) single nucleotide variant not provided [RCV001988405] Chr1:215674604 [GRCh38]
Chr1:215847946 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15125G>A (p.Trp5042Ter) single nucleotide variant not provided [RCV001913357] Chr1:215634631 [GRCh38]
Chr1:215807973 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13370C>G (p.Ser4457Ter) single nucleotide variant not provided [RCV002007165] Chr1:215674541 [GRCh38]
Chr1:215847883 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6570G>A (p.Trp2190Ter) single nucleotide variant not provided [RCV001874043] Chr1:215998974 [GRCh38]
Chr1:216172316 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.596A>G (p.Lys199Arg) single nucleotide variant not provided [RCV002024968] Chr1:216418569 [GRCh38]
Chr1:216591911 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14032G>C (p.Ala4678Pro) single nucleotide variant not provided [RCV001988566] Chr1:215671073 [GRCh38]
Chr1:215844415 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216061748)_(216074267_?)del deletion not provided [RCV001874632] Chr1:216061748..216074267 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8276T>G (p.Ile2759Ser) single nucleotide variant not provided [RCV001864610] Chr1:215879046 [GRCh38]
Chr1:216052388 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His) single nucleotide variant Retinitis pigmentosa 39 [RCV003453923]|Usher syndrome type 2A [RCV003453922]|not provided [RCV002003580]|not specified [RCV003331261] Chr1:215674746 [GRCh38]
Chr1:215848088 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14857dup (p.Asp4953fs) duplication not provided [RCV001946633] Chr1:215640668..215640669 [GRCh38]
Chr1:215814010..215814011 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4223A>G (p.Gln1408Arg) single nucleotide variant not provided [RCV002005848] Chr1:216196581 [GRCh38]
Chr1:216369923 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6383G>C (p.Cys2128Ser) single nucleotide variant not provided [RCV002003482] Chr1:216000505 [GRCh38]
Chr1:216173847 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8233A>C (p.Lys2745Gln) single nucleotide variant not provided [RCV002020362] Chr1:215879089 [GRCh38]
Chr1:216052431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5559_5561del (p.Leu1853_Cys1854delinsPhe) deletion not provided [RCV002002602] Chr1:216078100..216078102 [GRCh38]
Chr1:216251442..216251444 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4752T>A (p.Asp1584Glu) single nucleotide variant not provided [RCV001984824] Chr1:216097089 [GRCh38]
Chr1:216270431 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215972229)_(216270575_?)del deletion not provided [RCV001983032] Chr1:215972229..216270575 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1864G>C (p.Asp622His) single nucleotide variant not provided [RCV002040040] Chr1:216289387 [GRCh38]
Chr1:216462729 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4179A>C (p.Lys1393Asn) single nucleotide variant not provided [RCV002006773] Chr1:216196625 [GRCh38]
Chr1:216369967 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13876C>G (p.Gln4626Glu) single nucleotide variant Usher syndrome type 2A [RCV001822937] Chr1:215671229 [GRCh38]
Chr1:215844571 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003452138]|Usher syndrome type 2A [RCV003452137]|not provided [RCV001910016] Chr1:215674421 [GRCh38]
Chr1:215847763 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6957+1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003446977]|Usher syndrome type 2A [RCV002507733]|Usher syndrome type 2A [RCV003446976]|not provided [RCV002005489] Chr1:215970624 [GRCh38]
Chr1:216143966 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13419_13420del (p.Gln4473fs) deletion not provided [RCV001893914] Chr1:215674491..215674492 [GRCh38]
Chr1:215847833..215847834 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4115C>A (p.Pro1372His) single nucleotide variant Usher syndrome type 2A [RCV001843941] Chr1:216196689 [GRCh38]
Chr1:216370031 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:216003062-216084727) copy number loss not specified [RCV002052823] Chr1:216003062..216084727 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13296T>G (p.Ser4432Arg) single nucleotide variant not provided [RCV001966419] Chr1:215674615 [GRCh38]
Chr1:215847957 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2155G>A (p.Ala719Thr) single nucleotide variant not provided [RCV001947861] Chr1:216250915 [GRCh38]
Chr1:216424257 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12281A>C (p.Asn4094Thr) single nucleotide variant not provided [RCV001927456] Chr1:215680162 [GRCh38]
Chr1:215853504 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3742_3743dup (p.Pro1249fs) duplication not provided [RCV001908068] Chr1:216199694..216199695 [GRCh38]
Chr1:216373036..216373037 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216138639)_(216173924_?)del deletion not provided [RCV001982951] Chr1:216138639..216173924 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12763G>A (p.Val4255Met) single nucleotide variant not provided [RCV002020930] Chr1:215675148 [GRCh38]
Chr1:215848490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12653C>T (p.Thr4218Ile) single nucleotide variant not provided [RCV002041941] Chr1:215675258 [GRCh38]
Chr1:215848600 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln) single nucleotide variant Inborn genetic diseases [RCV003365491]|Retinitis pigmentosa 39 [RCV003452047]|Usher syndrome type 2A [RCV003452046]|not provided [RCV001889917] Chr1:216072957 [GRCh38]
Chr1:216246299 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216369875)_(216424460_?)del deletion not provided [RCV001983036] Chr1:216369875..216424460 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5933C>A (p.Pro1978His) single nucleotide variant not provided [RCV001911222] Chr1:216070217 [GRCh38]
Chr1:216243559 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6332C>A (p.Ala2111Glu) single nucleotide variant not provided [RCV001967877] Chr1:216000556 [GRCh38]
Chr1:216173898 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9248A>T (p.Tyr3083Phe) single nucleotide variant not provided [RCV001945658] Chr1:215844304 [GRCh38]
Chr1:216017646 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003453956]|Usher syndrome type 2A [RCV003453955]|not provided [RCV002004415] Chr1:216073147 [GRCh38]
Chr1:216246489 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4987+1G>A single nucleotide variant not provided [RCV002021483] Chr1:216086718 [GRCh38]
Chr1:216260060 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn) single nucleotide variant Inborn genetic diseases [RCV003375487]|Retinitis pigmentosa 39 [RCV003453837]|Usher syndrome type 2A [RCV003453836]|not provided [RCV002004479] Chr1:215759819 [GRCh38]
Chr1:215933161 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003453817]|Usher syndrome type 2A [RCV003453816]|not provided [RCV001968038] Chr1:215759723 [GRCh38]
Chr1:215933065 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14816C>T (p.Ser4939Leu) single nucleotide variant not provided [RCV001985482] Chr1:215640710 [GRCh38]
Chr1:215814052 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4759-2A>G single nucleotide variant not provided [RCV001909031] Chr1:216089141 [GRCh38]
Chr1:216262483 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215972239)_(216074257_?)del deletion not provided [RCV001947088] Chr1:215972239..216074257 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11515C>T (p.Gln3839Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003471004]|not provided [RCV001910773] Chr1:215743210 [GRCh38]
Chr1:215916552 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13685T>C (p.Ile4562Thr) single nucleotide variant not provided [RCV001893213] Chr1:215674226 [GRCh38]
Chr1:215847568 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9065G>T (p.Gly3022Val) single nucleotide variant not provided [RCV001926760] Chr1:215844487 [GRCh38]
Chr1:216017829 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8405A>G (p.Tyr2802Cys) single nucleotide variant not provided [RCV002021441] Chr1:215878917 [GRCh38]
Chr1:216052259 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216107948)_(216166519_?)dup duplication not provided [RCV002039401] Chr1:216107948..216166519 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10807G>A (p.Ala3603Thr) single nucleotide variant not specified [RCV001844781] Chr1:215779975 [GRCh38]
Chr1:215953317 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(216462753_216465516)_(216465713_216495224)del deletion Usher syndrome [RCV001844783] Chr1:216465516..216465713 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216243423)_(216538447_?)del deletion not provided [RCV001947089] Chr1:216243423..216538447 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3469A>C (p.Ile1157Leu) single nucleotide variant not provided [RCV001909190] Chr1:216199969 [GRCh38]
Chr1:216373311 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11765C>A (p.Ala3922Asp) single nucleotide variant not provided [RCV001871379] Chr1:215728331 [GRCh38]
Chr1:215901673 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11516del (p.Gln3839fs) deletion Usher syndrome type 2 [RCV002307777]|not provided [RCV001912287] Chr1:215743209 [GRCh38]
Chr1:215916551 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2682del (p.Gln895fs) deletion not provided [RCV001947621] Chr1:216246712 [GRCh38]
Chr1:216420054 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003453949]|Usher syndrome type 2A [RCV003138030]|not provided [RCV002042762] Chr1:215786792 [GRCh38]
Chr1:215960134 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6839G>A (p.Gly2280Asp) single nucleotide variant not provided [RCV001965503] Chr1:215970743 [GRCh38]
Chr1:216144085 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10414T>C (p.Tyr3472His) single nucleotide variant not provided [RCV001909251] Chr1:215782909 [GRCh38]
Chr1:215956251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15458A>G (p.Asp5153Gly) single nucleotide variant not provided [RCV001890657] Chr1:215628875 [GRCh38]
Chr1:215802217 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4828A>G (p.Ile1610Val) single nucleotide variant not provided [RCV001912575] Chr1:216089070 [GRCh38]
Chr1:216262412 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5516T>C (p.Val1839Ala) single nucleotide variant not provided [RCV002044188] Chr1:216078145 [GRCh38]
Chr1:216251487 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10851C>A (p.Asn3617Lys) single nucleotide variant not provided [RCV001895234] Chr1:215779931 [GRCh38]
Chr1:215953273 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4885G>A (p.Gly1629Ser) single nucleotide variant not provided [RCV001913207] Chr1:216089013 [GRCh38]
Chr1:216262355 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9881G>T (p.Cys3294Phe) single nucleotide variant not provided [RCV002043517] Chr1:215798984 [GRCh38]
Chr1:215972326 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3041G>C (p.Cys1014Ser) single nucleotide variant not provided [RCV001967722] Chr1:216217503 [GRCh38]
Chr1:216390845 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4118del (p.Leu1373fs) deletion not provided [RCV001947005] Chr1:216196686 [GRCh38]
Chr1:216370028 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8143dup (p.Val2715fs) duplication not provided [RCV001970138] Chr1:215888505..215888506 [GRCh38]
Chr1:216061847..216061848 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1028C>A (p.Ser343Tyr) single nucleotide variant not provided [RCV001913955] Chr1:216325420 [GRCh38]
Chr1:216498762 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003451986]|Usher syndrome type 2 [RCV002307769]|Usher syndrome type 2A [RCV003451985]|not provided [RCV002040066] Chr1:216246615 [GRCh38]
Chr1:216419957 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14133+5G>T single nucleotide variant USH2A-Related Disorders [RCV001825282] Chr1:215670967 [GRCh38]
Chr1:215844309 [GRCh37]
Chr1:1q41
not provided
NM_206933.4(USH2A):c.14753C>A (p.Thr4918Lys) single nucleotide variant not provided [RCV002021756] Chr1:215647560 [GRCh38]
Chr1:215820902 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12575G>T (p.Arg4192Leu) single nucleotide variant not provided [RCV001968813] Chr1:215675336 [GRCh38]
Chr1:215848678 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7569G>A (p.Trp2523Ter) single nucleotide variant not provided [RCV001970166] Chr1:215900100 [GRCh38]
Chr1:216073442 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7977del (p.Ile2659fs) deletion not provided [RCV001949502] Chr1:215888672 [GRCh38]
Chr1:216062014 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7397C>G (p.Ser2466Cys) single nucleotide variant not provided [RCV001891196] Chr1:215900809 [GRCh38]
Chr1:216074151 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5167+20A>G single nucleotide variant not provided [RCV001891367] Chr1:216084678 [GRCh38]
Chr1:216258020 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2509C>T (p.Arg837Trp) single nucleotide variant not provided [RCV002024374] Chr1:216246885 [GRCh38]
Chr1:216420227 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1156A>G (p.Ile386Val) single nucleotide variant not provided [RCV001970498] Chr1:216324340 [GRCh38]
Chr1:216497682 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7454T>C (p.Leu2485Ser) single nucleotide variant not provided [RCV002020392] Chr1:215900215 [GRCh38]
Chr1:216073557 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12765_12766delinsCT (p.Val4256Leu) indel not provided [RCV002005827] Chr1:215675145..215675146 [GRCh38]
Chr1:215848487..215848488 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5246T>C (p.Leu1749Ser) single nucleotide variant not provided [RCV002004016] Chr1:216083508 [GRCh38]
Chr1:216256850 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3840_3841delinsCT (p.Met1280_Arg1281delinsIleTer) indel Retinitis pigmentosa 39 [RCV003464306]|not provided [RCV001946591] Chr1:216198555..216198556 [GRCh38]
Chr1:216371897..216371898 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14893G>A (p.Val4965Met) single nucleotide variant not provided [RCV001986025] Chr1:215640633 [GRCh38]
Chr1:215813975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4627+15C>T single nucleotide variant not provided [RCV001913724] Chr1:216175237 [GRCh38]
Chr1:216348579 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7520T>C (p.Met2507Thr) single nucleotide variant not provided [RCV001911663] Chr1:215900149 [GRCh38]
Chr1:216073491 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13590dup (p.Ala4531fs) duplication not provided [RCV001970141] Chr1:215674320..215674321 [GRCh38]
Chr1:215847662..215847663 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9504C>A (p.Cys3168Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003475228]|not provided [RCV001970146] Chr1:215817063 [GRCh38]
Chr1:215990405 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4082-9C>A single nucleotide variant not provided [RCV002008138] Chr1:216196731 [GRCh38]
Chr1:216370073 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4102C>A (p.Pro1368Thr) single nucleotide variant not provided [RCV002024712] Chr1:216196702 [GRCh38]
Chr1:216370044 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003453966]|Usher syndrome type 2A [RCV003453965]|not provided [RCV002040517]|not specified [RCV002266090] Chr1:215680355 [GRCh38]
Chr1:215853697 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12502T>A (p.Ser4168Thr) single nucleotide variant not provided [RCV002040606] Chr1:215675409 [GRCh38]
Chr1:215848751 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11960A>T (p.Lys3987Met) single nucleotide variant not provided [RCV002022414] Chr1:215728136 [GRCh38]
Chr1:215901478 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.560A>C (p.Tyr187Ser) single nucleotide variant not provided [RCV001872112] Chr1:216418605 [GRCh38]
Chr1:216591947 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala) single nucleotide variant Inborn genetic diseases [RCV002562083]|Retinitis pigmentosa 39 [RCV003452210]|Usher syndrome type 2A [RCV003452209]|not provided [RCV002001941] Chr1:215759802 [GRCh38]
Chr1:215933144 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216011313)_(216011465_?)dup duplication not provided [RCV002044345] Chr1:216011313..216011465 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15297+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003471208]|not provided [RCV001966539] Chr1:215634458 [GRCh38]
Chr1:215807800 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter) single nucleotide variant Usher syndrome type 2A [RCV001842255] Chr1:215970737 [GRCh38]
Chr1:216144079 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5116T>G (p.Trp1706Gly) single nucleotide variant not provided [RCV002022478] Chr1:216084749 [GRCh38]
Chr1:216258091 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8026C>T (p.Pro2676Ser) single nucleotide variant not provided [RCV001927454] Chr1:215888623 [GRCh38]
Chr1:216061965 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1231G>T (p.Asp411Tyr) single nucleotide variant not provided [RCV001895094] Chr1:216324265 [GRCh38]
Chr1:216497607 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13372_13387del (p.Glu4458fs) deletion not provided [RCV001889632] Chr1:215674524..215674539 [GRCh38]
Chr1:215847866..215847881 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.943G>A (p.Ala315Thr) single nucleotide variant not provided [RCV002020985] Chr1:216325505 [GRCh38]
Chr1:216498847 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2228_2231del (p.Gly743fs) deletion not provided [RCV001945758] Chr1:216247163..216247166 [GRCh38]
Chr1:216420505..216420508 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2108A>T (p.Asp703Val) single nucleotide variant not provided [RCV002004520] Chr1:216250962 [GRCh38]
Chr1:216424304 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr) single nucleotide variant Usher syndrome type 2A [RCV002246560]|not provided [RCV001894349] Chr1:215798945 [GRCh38]
Chr1:215972287 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6934A>C (p.Lys2312Gln) single nucleotide variant not provided [RCV001970294] Chr1:215970648 [GRCh38]
Chr1:216143990 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11127T>G (p.Asn3709Lys) single nucleotide variant not provided [RCV001895429] Chr1:215759764 [GRCh38]
Chr1:215933106 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5660A>G (p.Asn1887Ser) single nucleotide variant not provided [RCV001987377] Chr1:216073213 [GRCh38]
Chr1:216246555 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2029C>T (p.Gln677Ter) single nucleotide variant not provided [RCV001949267] Chr1:216251041 [GRCh38]
Chr1:216424383 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1712A>G (p.Asn571Ser) single nucleotide variant not provided [RCV002040977] Chr1:216292303 [GRCh38]
Chr1:216465645 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6292_6296del (p.Tyr2098fs) deletion Usher syndrome type 2A [RCV001822898] Chr1:216046460..216046464 [GRCh38]
Chr1:216219802..216219806 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6326-10882_6326-10769del deletion Usher syndrome type 2A [RCV001822899] Chr1:216011331..216011444 [GRCh38]
Chr1:216184673..216184786 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.644G>C (p.Ser215Thr) single nucleotide variant not provided [RCV001926750] Chr1:216418521 [GRCh38]
Chr1:216591863 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14736C>A (p.His4912Gln) single nucleotide variant not provided [RCV001969993] Chr1:215647577 [GRCh38]
Chr1:215820919 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4303A>C (p.Lys1435Gln) single nucleotide variant not provided [RCV001987083] Chr1:216190316 [GRCh38]
Chr1:216363658 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.172T>C (p.Cys58Arg) single nucleotide variant not provided [RCV001928650] Chr1:216422165 [GRCh38]
Chr1:216595507 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9177T>G (p.Asn3059Lys) single nucleotide variant not provided [RCV001890089] Chr1:215844375 [GRCh38]
Chr1:216017717 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216166342)_(216538447_?)del deletion not provided [RCV001892130] Chr1:216166342..216538447 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4627G>A (p.Gly1543Ser) single nucleotide variant not provided [RCV001892478] Chr1:216175252 [GRCh38]
Chr1:216348594 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8545G>A (p.Gly2849Arg) single nucleotide variant not provided [RCV001872321] Chr1:215878777 [GRCh38]
Chr1:216052119 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12469dup (p.Ser4157fs) duplication not provided [RCV001928349] Chr1:215675441..215675442 [GRCh38]
Chr1:215848783..215848784 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10811T>G (p.Val3604Gly) single nucleotide variant not provided [RCV002044119] Chr1:215779971 [GRCh38]
Chr1:215953313 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter) single nucleotide variant Usher syndrome type 2 [RCV002307814]|Usher syndrome type 2A [RCV003453865]|not provided [RCV001970023] Chr1:215934748 [GRCh38]
Chr1:216108090 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14181G>A (p.Trp4727Ter) single nucleotide variant not provided [RCV001895486] Chr1:215650754 [GRCh38]
Chr1:215824096 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5848A>G (p.Thr1950Ala) single nucleotide variant not provided [RCV001970351] Chr1:216072898 [GRCh38]
Chr1:216246240 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) single nucleotide variant Usher syndrome type 2A [RCV003136242]|not provided [RCV001890211] Chr1:216078305 [GRCh38]
Chr1:216251647 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215848781)_(215852314_?)del deletion not provided [RCV002039445] Chr1:215848781..215852314 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15041C>A (p.Ser5014Tyr) single nucleotide variant not provided [RCV001965395] Chr1:215639166 [GRCh38]
Chr1:215812508 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5752G>T (p.Glu1918Ter) single nucleotide variant not provided [RCV002004729] Chr1:216073121 [GRCh38]
Chr1:216246463 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14406_14407insTC (p.Ile4803fs) insertion not provided [RCV001985065] Chr1:215648703..215648704 [GRCh38]
Chr1:215822045..215822046 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6239del (p.Lys2080fs) deletion not provided [RCV001970025] Chr1:216046517 [GRCh38]
Chr1:216219859 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.836C>T (p.Ala279Val) single nucleotide variant not provided [RCV001965310] Chr1:216327603 [GRCh38]
Chr1:216500945 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215901352)_(216051242_?)dup duplication not provided [RCV002039424] Chr1:215901352..216051242 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003451972]|Usher syndrome type 2A [RCV003451971]|not provided [RCV002543343]|not specified [RCV001844786] Chr1:215728272 [GRCh38]
Chr1:215901614 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003451974]|Usher syndrome type 2A [RCV003451973]|not provided [RCV002545254]|not specified [RCV001844787] Chr1:215813820 [GRCh38]
Chr1:215987162 [GRCh37]
Chr1:1q41
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837012] Chr1:216243817..220231236 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15282G>A (p.Pro5094=) single nucleotide variant not provided [RCV001946384] Chr1:215634474 [GRCh38]
Chr1:215807816 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.15519+20C>G single nucleotide variant not provided [RCV001912366] Chr1:215628794 [GRCh38]
Chr1:215802136 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.12304A>G (p.Ile4102Val) single nucleotide variant not provided [RCV001863290] Chr1:215675607 [GRCh38]
Chr1:215848949 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1252A>T (p.Asn418Tyr) single nucleotide variant not provided [RCV001890464] Chr1:216324244 [GRCh38]
Chr1:216497586 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4966A>G (p.Thr1656Ala) single nucleotide variant not provided [RCV001837112] Chr1:216086740 [GRCh38]
Chr1:216260082 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15125G>C (p.Trp5042Ser) single nucleotide variant not provided [RCV002022818] Chr1:215634631 [GRCh38]
Chr1:215807973 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6622G>A (p.Val2208Ile) single nucleotide variant not provided [RCV001948744] Chr1:215998922 [GRCh38]
Chr1:216172264 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5751C>G (p.Tyr1917Ter) single nucleotide variant not provided [RCV001949372] Chr1:216073122 [GRCh38]
Chr1:216246464 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5548del (p.Tyr1850fs) deletion Usher syndrome type 2A [RCV001822897] Chr1:216078113 [GRCh38]
Chr1:216251455 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216051090)_(216052450_?)del deletion not provided [RCV001982977] Chr1:216051090..216052450 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12100G>T (p.Glu4034Ter) single nucleotide variant not provided [RCV001945782] Chr1:215680343 [GRCh38]
Chr1:215853685 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2666T>A (p.Leu889Ter) single nucleotide variant not provided [RCV001911301] Chr1:216246728 [GRCh38]
Chr1:216420070 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.137T>A (p.Phe46Tyr) single nucleotide variant not provided [RCV001870902] Chr1:216422200 [GRCh38]
Chr1:216595542 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15052+12A>G single nucleotide variant not provided [RCV001909359] Chr1:215639143 [GRCh38]
Chr1:215812485 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3812G>A (p.Gly1271Glu) single nucleotide variant not provided [RCV001912708] Chr1:216198584 [GRCh38]
Chr1:216371926 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15149T>C (p.Leu5050Pro) single nucleotide variant not provided [RCV002052405] Chr1:215634607 [GRCh38]
Chr1:215807949 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41(chr1:215972794-216035558) copy number loss not specified [RCV002053858] Chr1:215972794..216035558 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2135C>T (p.Ser712Leu) single nucleotide variant not provided [RCV001893450] Chr1:216250935 [GRCh38]
Chr1:216424277 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14302_14305dup (p.Arg4769fs) duplication not provided [RCV001946063] Chr1:215650629..215650630 [GRCh38]
Chr1:215823971..215823972 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.563A>C (p.Tyr188Ser) single nucleotide variant not provided [RCV001893486] Chr1:216418602 [GRCh38]
Chr1:216591944 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.5103C>A (p.Asn1701Lys) single nucleotide variant not provided [RCV001947950] Chr1:216084762 [GRCh38]
Chr1:216258104 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9549T>G (p.Ile3183Met) single nucleotide variant not provided [RCV001947967] Chr1:215817018 [GRCh38]
Chr1:215990360 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13123T>C (p.Cys4375Arg) single nucleotide variant not provided [RCV002039954] Chr1:215674788 [GRCh38]
Chr1:215848130 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1144G>A (p.Val382Met) single nucleotide variant not provided [RCV002023889] Chr1:216324352 [GRCh38]
Chr1:216497694 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4273C>T (p.Gln1425Ter) single nucleotide variant not provided [RCV002007169] Chr1:216190346 [GRCh38]
Chr1:216363688 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.475C>T (p.Gln159Ter) single nucleotide variant not provided [RCV001947083] Chr1:216421862 [GRCh38]
Chr1:216595204 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15117C>A (p.Ser5039Arg) single nucleotide variant not provided [RCV001985274] Chr1:215634639 [GRCh38]
Chr1:215807981 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4492C>T (p.Pro1498Ser) single nucleotide variant not provided [RCV002022888] Chr1:216175387 [GRCh38]
Chr1:216348729 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10777A>G (p.Ile3593Val) single nucleotide variant not provided [RCV002022383] Chr1:215780005 [GRCh38]
Chr1:215953347 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215823914)_(215824163_?)del deletion not provided [RCV001983018] Chr1:215823914..215824163 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216497583)_(216503303_?)del deletion not provided [RCV001983046] Chr1:216497583..216503303 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216219763)_(216270565_?)del deletion not provided [RCV001983064] Chr1:216219763..216270565 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6385A>G (p.Thr2129Ala) single nucleotide variant not provided [RCV001913288] Chr1:216000503 [GRCh38]
Chr1:216173845 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003453941]|Usher syndrome type 2A [RCV003453940]|not provided [RCV001986599] Chr1:215674949 [GRCh38]
Chr1:215848291 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3055G>C (p.Gly1019Arg) single nucleotide variant not provided [RCV001913297] Chr1:216217489 [GRCh38]
Chr1:216390831 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3098A>G (p.Asp1033Gly) single nucleotide variant not provided [RCV002042320] Chr1:216217446 [GRCh38]
Chr1:216390788 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4556G>A (p.Gly1519Glu) single nucleotide variant not provided [RCV001947749] Chr1:216175323 [GRCh38]
Chr1:216348665 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer) indel Usher syndrome type 2A [RCV001842269] Chr1:215817047..215817048 [GRCh38]
Chr1:215990389..215990390 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13634del (p.Pro4545fs) deletion not provided [RCV002002490] Chr1:215674277 [GRCh38]
Chr1:215847619 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3532C>A (p.Pro1178Thr) single nucleotide variant not provided [RCV001872192] Chr1:216199906 [GRCh38]
Chr1:216373248 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8719A>C (p.Ser2907Arg) single nucleotide variant not provided [RCV001910739] Chr1:215867133 [GRCh38]
Chr1:216040475 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10328T>C (p.Met3443Thr) single nucleotide variant not provided [RCV001911385] Chr1:215786729 [GRCh38]
Chr1:215960071 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7400C>T (p.Pro2467Leu) single nucleotide variant not provided [RCV001911049] Chr1:215900806 [GRCh38]
Chr1:216074148 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12523_12532del (p.Trp4175fs) deletion not provided [RCV001927851] Chr1:215675379..215675388 [GRCh38]
Chr1:215848721..215848730 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10266C>A (p.Ser3422Arg) single nucleotide variant not provided [RCV001948501] Chr1:215786791 [GRCh38]
Chr1:215960133 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1551-5T>G single nucleotide variant not provided [RCV001892178] Chr1:216321981 [GRCh38]
Chr1:216495323 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14287G>C (p.Gly4763Arg) single nucleotide variant not provided [RCV001947055] Chr1:215650648 [GRCh38]
Chr1:215823990 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9121A>C (p.Thr3041Pro) single nucleotide variant not provided [RCV001889937] Chr1:215844431 [GRCh38]
Chr1:216017773 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628-17C>T single nucleotide variant not provided [RCV002002555] Chr1:216097230 [GRCh38]
Chr1:216270572 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14525C>T (p.Ser4842Leu) single nucleotide variant not provided [RCV001891447] Chr1:215648585 [GRCh38]
Chr1:215821927 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4919T>C (p.Ile1640Thr) single nucleotide variant not provided [RCV001986721] Chr1:216086787 [GRCh38]
Chr1:216260129 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8883_8886del (p.Leu2962fs) deletion not provided [RCV001892806] Chr1:215845993..215845996 [GRCh38]
Chr1:216019335..216019338 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.401G>A (p.Ser134Asn) single nucleotide variant not provided [RCV001984381] Chr1:216421936 [GRCh38]
Chr1:216595278 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2236C>G (p.Pro746Ala) single nucleotide variant not provided [RCV001908991] Chr1:216247158 [GRCh38]
Chr1:216420500 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216495215)_(216501006_?)dup duplication not provided [RCV002039436] Chr1:216495215..216501006 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7060C>A (p.Arg2354Ser) single nucleotide variant not provided [RCV001965350] Chr1:215965377 [GRCh38]
Chr1:216138719 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.602T>C (p.Met201Thr) single nucleotide variant not provided [RCV001983542] Chr1:216418563 [GRCh38]
Chr1:216591905 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15499A>C (p.Met5167Leu) single nucleotide variant not provided [RCV001983661] Chr1:215628834 [GRCh38]
Chr1:215802176 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2848C>T (p.Pro950Ser) single nucleotide variant not provided [RCV001967309] Chr1:216232098 [GRCh38]
Chr1:216405440 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14272C>T (p.Pro4758Ser) single nucleotide variant not provided [RCV001890663] Chr1:215650663 [GRCh38]
Chr1:215824005 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12914T>C (p.Met4305Thr) single nucleotide variant not provided [RCV002004317] Chr1:215674997 [GRCh38]
Chr1:215848339 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11438A>T (p.Asp3813Val) single nucleotide variant not provided [RCV001909437] Chr1:215743287 [GRCh38]
Chr1:215916629 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5692G>A (p.Val1898Ile) single nucleotide variant not provided [RCV001886585] Chr1:216073181 [GRCh38]
Chr1:216246523 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4043T>C (p.Val1348Ala) single nucleotide variant not provided [RCV001982145] Chr1:216198353 [GRCh38]
Chr1:216371695 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12987T>G (p.Tyr4329Ter) single nucleotide variant not provided [RCV002037781] Chr1:215674924 [GRCh38]
Chr1:215848266 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5294T>C (p.Leu1765Pro) single nucleotide variant Usher syndrome type 2A [RCV002225949]|not provided [RCV001916410] Chr1:216083460 [GRCh38]
Chr1:216256802 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.7468_7470del (p.Ser2490del) deletion not provided [RCV001955593] Chr1:215900199..215900201 [GRCh38]
Chr1:216073541..216073543 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8881A>G (p.Thr2961Ala) single nucleotide variant not provided [RCV001925449] Chr1:215845998 [GRCh38]
Chr1:216019340 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10502_10535dup (p.Asn3512fs) duplication not provided [RCV001962873] Chr1:215782787..215782788 [GRCh38]
Chr1:215956129..215956130 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216256788)_(216270565_?)del deletion not provided [RCV001963310] Chr1:216256788..216270565 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10951T>C (p.Tyr3651His) single nucleotide variant not provided [RCV001943979] Chr1:215766777 [GRCh38]
Chr1:215940119 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2234A>C (p.Glu745Ala) single nucleotide variant not provided [RCV001944052] Chr1:216247160 [GRCh38]
Chr1:216420502 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3699del (p.Ile1234fs) deletion not provided [RCV001917786] Chr1:216199739 [GRCh38]
Chr1:216373081 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003453893]|Usher syndrome type 2A [RCV002507717]|Usher syndrome type 2A [RCV003453892]|not provided [RCV001975355] Chr1:216048563 [GRCh38]
Chr1:216221905 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2228G>C (p.Gly743Ala) single nucleotide variant not provided [RCV001957205] Chr1:216247166 [GRCh38]
Chr1:216420508 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13016del (p.Gly4339fs) deletion not provided [RCV001922009] Chr1:215674895 [GRCh38]
Chr1:215848237 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10690_10693dup (p.Tyr3565fs) duplication not provided [RCV001886684] Chr1:215782088..215782089 [GRCh38]
Chr1:215955430..215955431 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11232-3T>C single nucleotide variant not provided [RCV001887265] Chr1:215758755 [GRCh38]
Chr1:215932097 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1218T>A (p.Ser406Arg) single nucleotide variant not provided [RCV001963748] Chr1:216324278 [GRCh38]
Chr1:216497620 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3131T>A (p.Val1044Asp) single nucleotide variant not provided [RCV001963761] Chr1:216217413 [GRCh38]
Chr1:216390755 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3598G>A (p.Gly1200Ser) single nucleotide variant not provided [RCV002046881] Chr1:216199840 [GRCh38]
Chr1:216373182 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu) single nucleotide variant Inborn genetic diseases [RCV003164229]|Retinitis pigmentosa 39 [RCV003452045]|Usher syndrome type 2A [RCV003452044]|not provided [RCV001877520] Chr1:216198482 [GRCh38]
Chr1:216371824 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216348574)_(216390912_?)del deletion not provided [RCV001959168] Chr1:216348574..216390912 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14971T>A (p.Phe4991Ile) single nucleotide variant not provided [RCV002038142] Chr1:215639236 [GRCh38]
Chr1:215812578 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6234del (p.Lys2080fs) deletion not provided [RCV001943217] Chr1:216046522 [GRCh38]
Chr1:216219864 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6979G>A (p.Ala2327Thr) single nucleotide variant not provided [RCV001961641] Chr1:215965458 [GRCh38]
Chr1:216138800 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6805G>T (p.Gly2269Cys) single nucleotide variant not provided [RCV002050936] Chr1:215993020 [GRCh38]
Chr1:216166362 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10108T>G (p.Cys3370Gly) single nucleotide variant not provided [RCV001978479] Chr1:215790133 [GRCh38]
Chr1:215963475 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.456_457insGGCTAAA (p.Trp153delinsGlyTer) insertion not provided [RCV001959192] Chr1:216421880..216421881 [GRCh38]
Chr1:216595222..216595223 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.659A>G (p.Gln220Arg) single nucleotide variant not provided [RCV001883952] Chr1:216365078 [GRCh38]
Chr1:216538420 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12801_12802dup (p.Pro4268fs) microsatellite not provided [RCV001941316] Chr1:215675108..215675109 [GRCh38]
Chr1:215848450..215848451 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2242C>A (p.Gln748Lys) single nucleotide variant not provided [RCV001941322] Chr1:216247152 [GRCh38]
Chr1:216420494 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12743A>T (p.His4248Leu) single nucleotide variant not provided [RCV001962506] Chr1:215675168 [GRCh38]
Chr1:215848510 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1189A>G (p.Ile397Val) single nucleotide variant not provided [RCV001997824] Chr1:216324307 [GRCh38]
Chr1:216497649 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10345G>C (p.Glu3449Gln) single nucleotide variant not provided [RCV001944802] Chr1:215786712 [GRCh38]
Chr1:215960054 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys) single nucleotide variant Inborn genetic diseases [RCV002550379]|Retinitis pigmentosa 39 [RCV003452030]|Usher syndrome type 2A [RCV003452029]|not provided [RCV001944810] Chr1:216083565 [GRCh38]
Chr1:216256907 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.763C>A (p.Gln255Lys) single nucleotide variant not provided [RCV001935285] Chr1:216364974 [GRCh38]
Chr1:216538316 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4074_4078del (p.Glu1359fs) deletion not provided [RCV001903801] Chr1:216198318..216198322 [GRCh38]
Chr1:216371660..216371664 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9293G>C (p.Ser3098Thr) single nucleotide variant not provided [RCV002036296] Chr1:215838069 [GRCh38]
Chr1:216011411 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5961C>A (p.Tyr1987Ter) single nucleotide variant not provided [RCV001941942] Chr1:216070189 [GRCh38]
Chr1:216243531 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13549G>A (p.Gly4517Ser) single nucleotide variant not provided [RCV001942407] Chr1:215674362 [GRCh38]
Chr1:215847704 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10561T>A (p.Trp3521Arg) single nucleotide variant not provided [RCV001888190] Chr1:215782762 [GRCh38]
Chr1:215956104 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.242dup (p.Arg82fs) duplication not provided [RCV001943303] Chr1:216422094..216422095 [GRCh38]
Chr1:216595436..216595437 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14380G>A (p.Gly4794Ser) single nucleotide variant not provided [RCV002018516] Chr1:215648730 [GRCh38]
Chr1:215822072 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.269A>G (p.Tyr90Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003475194]|not provided [RCV001953352] Chr1:216422068 [GRCh38]
Chr1:216595410 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.520G>A (p.Val174Met) single nucleotide variant not provided [RCV001886673] Chr1:216418645 [GRCh38]
Chr1:216591987 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15247C>T (p.Gln5083Ter) single nucleotide variant not provided [RCV002037733] Chr1:215634509 [GRCh38]
Chr1:215807851 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10350dup (p.Ile3451fs) duplication not provided [RCV001939508] Chr1:215786706..215786707 [GRCh38]
Chr1:215960048..215960049 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu) single nucleotide variant Inborn genetic diseases [RCV002561417]|Retinitis pigmentosa 39 [RCV003452206]|Usher syndrome type 2A [RCV003452205]|not provided [RCV001941186] Chr1:216231974 [GRCh38]
Chr1:216405316 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1401C>A (p.Tyr467Ter) single nucleotide variant not provided [RCV001944365] Chr1:216323623 [GRCh38]
Chr1:216496965 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.69del (p.Tyr24fs) deletion Retinitis pigmentosa 39 [RCV003475116]|not provided [RCV002047166] Chr1:216422268 [GRCh38]
Chr1:216595610 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10792A>C (p.Ile3598Leu) single nucleotide variant not provided [RCV001941320] Chr1:215779990 [GRCh38]
Chr1:215953332 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7788T>A (p.Tyr2596Ter) single nucleotide variant not provided [RCV002037783] Chr1:215888861 [GRCh38]
Chr1:216062203 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14134-16T>A single nucleotide variant not provided [RCV001942433] Chr1:215650817 [GRCh38]
Chr1:215824159 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9744A>C (p.Glu3248Asp) single nucleotide variant not provided [RCV001888563] Chr1:215799121 [GRCh38]
Chr1:215972463 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14880A>G (p.Gln4960=) single nucleotide variant not provided [RCV001996405] Chr1:215640646 [GRCh38]
Chr1:215813988 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13274C>G (p.Thr4425Arg) single nucleotide variant not provided [RCV002045925] Chr1:215674637 [GRCh38]
Chr1:215847979 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6245A>C (p.Asn2082Thr) single nucleotide variant not provided [RCV001934207] Chr1:216046511 [GRCh38]
Chr1:216219853 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr) single nucleotide variant Inborn genetic diseases [RCV002557729]|Retinitis pigmentosa 39 [RCV003452153]|Usher syndrome type 2A [RCV003452152]|not provided [RCV001935676] Chr1:216207279 [GRCh38]
Chr1:216380621 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216495215)_(216498951_?)del deletion not provided [RCV001942022] Chr1:216495215..216498951 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1027T>C (p.Ser343Pro) single nucleotide variant not provided [RCV001923372] Chr1:216325421 [GRCh38]
Chr1:216498763 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14831del (p.Leu4944fs) deletion Retinitis pigmentosa 39 [RCV003471027]|not provided [RCV001939760] Chr1:215640695 [GRCh38]
Chr1:215814037 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11148A>G (p.Gln3716=) single nucleotide variant not provided [RCV001961839] Chr1:215759743 [GRCh38]
Chr1:215933085 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.9076C>T (p.Pro3026Ser) single nucleotide variant not provided [RCV001961903] Chr1:215844476 [GRCh38]
Chr1:216017818 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14936C>A (p.Thr4979Asn) single nucleotide variant not provided [RCV002028698] Chr1:215640590 [GRCh38]
Chr1:215813932 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1924G>C (p.Asp642His) single nucleotide variant not provided [RCV001880998] Chr1:216289327 [GRCh38]
Chr1:216462669 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9941T>C (p.Val3314Ala) single nucleotide variant not provided [RCV002031500] Chr1:215798924 [GRCh38]
Chr1:215972266 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7120+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003464353]|not provided [RCV002000554] Chr1:215965316 [GRCh38]
Chr1:216138658 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216166352)_(216173914_?)del deletion not provided [RCV001963085] Chr1:216166352..216173914 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8593C>T (p.Leu2865Phe) single nucleotide variant not provided [RCV001943365] Chr1:215877846 [GRCh38]
Chr1:216051188 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5153A>C (p.Gln1718Pro) single nucleotide variant not provided [RCV001958605] Chr1:216084712 [GRCh38]
Chr1:216258054 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9428A>G (p.Tyr3143Cys) single nucleotide variant not provided [RCV001883417] Chr1:215817139 [GRCh38]
Chr1:215990481 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6538A>G (p.Met2180Val) single nucleotide variant not provided [RCV002048697] Chr1:215999006 [GRCh38]
Chr1:216172348 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5801C>T (p.Ser1934Leu) single nucleotide variant not provided [RCV001934424] Chr1:216072945 [GRCh38]
Chr1:216246287 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13417C>T (p.Gln4473Ter) single nucleotide variant not provided [RCV001959990] Chr1:215674494 [GRCh38]
Chr1:215847836 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216219753)_(216270575_?)dup duplication not provided [RCV001982427] Chr1:216219753..216270575 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4388T>C (p.Leu1463Ser) single nucleotide variant not provided [RCV002020090] Chr1:216190231 [GRCh38]
Chr1:216363573 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10598A>G (p.Tyr3533Cys) single nucleotide variant not provided [RCV001943420] Chr1:215782184 [GRCh38]
Chr1:215955526 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5250_5277del (p.Asn1750fs) deletion not provided [RCV001951104] Chr1:216083477..216083504 [GRCh38]
Chr1:216256819..216256846 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1839A>G (p.Thr613=) single nucleotide variant not provided [RCV002031624] Chr1:216292176 [GRCh38]
Chr1:216465518 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13321G>C (p.Glu4441Gln) single nucleotide variant not provided [RCV002018625] Chr1:215674590 [GRCh38]
Chr1:215847932 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1744A>C (p.Lys582Gln) single nucleotide variant not provided [RCV002018629] Chr1:216292271 [GRCh38]
Chr1:216465613 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1786_1787delinsAG (p.Glu596Arg) indel not provided [RCV001886435] Chr1:216292228..216292229 [GRCh38]
Chr1:216465570..216465571 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216270405)_(216270575_?)del deletion not provided [RCV002000086] Chr1:216270405..216270575 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11684G>C (p.Gly3895Ala) single nucleotide variant not provided [RCV002000618] Chr1:215741402 [GRCh38]
Chr1:215914744 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14888A>G (p.Glu4963Gly) single nucleotide variant not provided [RCV001991840] Chr1:215640638 [GRCh38]
Chr1:215813980 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3301G>T (p.Asp1101Tyr) single nucleotide variant not provided [RCV002031790] Chr1:216207288 [GRCh38]
Chr1:216380630 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1177_1178insCGGAAAT (p.Gln393fs) insertion not provided [RCV001994744] Chr1:216324318..216324319 [GRCh38]
Chr1:216497660..216497661 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1665_1666del (p.Leu555_Tyr556insTer) deletion not provided [RCV001962717] Chr1:216292349..216292350 [GRCh38]
Chr1:216465691..216465692 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4687C>T (p.Pro1563Ser) single nucleotide variant not provided [RCV001962723] Chr1:216097154 [GRCh38]
Chr1:216270496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8660A>G (p.Tyr2887Cys) single nucleotide variant not provided [RCV001942552] Chr1:215877779 [GRCh38]
Chr1:216051121 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13732_13796dup (p.Lys4600_Pro4601insSerTyrThrTerLys) duplication not provided [RCV002000150] Chr1:215674114..215674115 [GRCh38]
Chr1:215847456..215847457 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12569T>C (p.Val4190Ala) single nucleotide variant not provided [RCV001961671] Chr1:215675342 [GRCh38]
Chr1:215848684 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14495T>G (p.Leu4832Arg) single nucleotide variant not provided [RCV001888892] Chr1:215648615 [GRCh38]
Chr1:215821957 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216495205)_(216497057_?)del deletion not provided [RCV001959069] Chr1:216495205..216497057 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6175G>T (p.Val2059Phe) single nucleotide variant not provided [RCV001923860] Chr1:216046581 [GRCh38]
Chr1:216219923 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15324G>C (p.Arg5108=) single nucleotide variant not provided [RCV001959097] Chr1:215629009 [GRCh38]
Chr1:215802351 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4246dup (p.Ser1416fs) duplication not provided [RCV002000190] Chr1:216196557..216196558 [GRCh38]
Chr1:216369899..216369900 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11531T>A (p.Ile3844Lys) single nucleotide variant not provided [RCV001962273] Chr1:215743194 [GRCh38]
Chr1:215916536 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2730del (p.Thr911fs) deletion not provided [RCV001875595] Chr1:216246664 [GRCh38]
Chr1:216420006 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4121_4122del (p.Ser1374fs) microsatellite not provided [RCV001875598] Chr1:216196682..216196683 [GRCh38]
Chr1:216370024..216370025 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2375G>A (p.Cys792Tyr) single nucleotide variant not provided [RCV001917501] Chr1:216247019 [GRCh38]
Chr1:216420361 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6367T>C (p.Cys2123Arg) single nucleotide variant not provided [RCV001954011] Chr1:216000521 [GRCh38]
Chr1:216173863 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2168-2A>C single nucleotide variant not provided [RCV001962279] Chr1:216247228 [GRCh38]
Chr1:216420570 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13000C>T (p.Gln4334Ter) single nucleotide variant Usher syndrome type 2 [RCV002307811]|not provided [RCV002037975] Chr1:215674911 [GRCh38]
Chr1:215848253 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14834_14837del (p.Ser4945fs) deletion not provided [RCV001942178] Chr1:215640689..215640692 [GRCh38]
Chr1:215814031..215814034 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14087del (p.Ser4696fs) deletion not provided [RCV001942180] Chr1:215671018 [GRCh38]
Chr1:215844360 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys) single nucleotide variant Inborn genetic diseases [RCV002579612]|Retinitis pigmentosa 39 [RCV003453921]|Usher syndrome type 2A [RCV003453920]|not provided [RCV002037988] Chr1:215628987 [GRCh38]
Chr1:215802329 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4169C>T (p.Thr1390Ile) single nucleotide variant not provided [RCV001887956] Chr1:216196635 [GRCh38]
Chr1:216369977 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003452020]|Usher syndrome type 2A [RCV003452019]|not provided [RCV001942587] Chr1:215799059 [GRCh38]
Chr1:215972401 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10666G>T (p.Gly3556Ter) single nucleotide variant not provided [RCV001943654] Chr1:215782116 [GRCh38]
Chr1:215955458 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11647A>G (p.Ile3883Val) single nucleotide variant not provided [RCV001943693] Chr1:215741439 [GRCh38]
Chr1:215914781 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13778C>A (p.Ser4593Ter) single nucleotide variant not provided [RCV001940486] Chr1:215674133 [GRCh38]
Chr1:215847475 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2877del (p.Asn960fs) deletion not provided [RCV001941731] Chr1:216232069 [GRCh38]
Chr1:216405411 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12381_12382del (p.Tyr4128fs) microsatellite not provided [RCV001951387] Chr1:215675529..215675530 [GRCh38]
Chr1:215848871..215848872 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11406_11407insTTGT (p.Ile3803fs) insertion not provided [RCV001952764] Chr1:215743318..215743319 [GRCh38]
Chr1:215916660..215916661 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14771G>T (p.Ser4924Ile) single nucleotide variant not provided [RCV001952789] Chr1:215647542 [GRCh38]
Chr1:215820884 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12164del (p.Pro4055fs) deletion not provided [RCV001932194] Chr1:215680279 [GRCh38]
Chr1:215853621 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7414C>T (p.Gln2472Ter) single nucleotide variant not provided [RCV001958752] Chr1:215900792 [GRCh38]
Chr1:216074134 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14905G>T (p.Gly4969Ter) single nucleotide variant not provided [RCV001996703] Chr1:215640621 [GRCh38]
Chr1:215813963 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10183G>T (p.Glu3395Ter) single nucleotide variant not provided [RCV001887995] Chr1:215786874 [GRCh38]
Chr1:215960216 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215960002)_(215960226_?)del deletion not provided [RCV001963251] Chr1:215960002..215960226 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9638C>T (p.Pro3213Leu) single nucleotide variant not provided [RCV001943825] Chr1:215813837 [GRCh38]
Chr1:215987179 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1001G>C (p.Arg334Pro) single nucleotide variant not provided [RCV001907178] Chr1:216325447 [GRCh38]
Chr1:216498789 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4565dup (p.Ile1523fs) duplication not provided [RCV001972558] Chr1:216175313..216175314 [GRCh38]
Chr1:216348655..216348656 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10724G>C (p.Cys3575Ser) single nucleotide variant not provided [RCV002030752] Chr1:215782058 [GRCh38]
Chr1:215955400 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14080T>C (p.Ser4694Pro) single nucleotide variant not provided [RCV001994331] Chr1:215671025 [GRCh38]
Chr1:215844367 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15584C>G (p.Thr5195Ser) single nucleotide variant not provided [RCV002051355] Chr1:215625806 [GRCh38]
Chr1:215799148 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13286_13302del (p.Gly4428_Cys4429insTer) deletion not provided [RCV001957521] Chr1:215674609..215674625 [GRCh38]
Chr1:215847951..215847967 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216011313)_(216017858_?)del deletion not provided [RCV001972604] Chr1:216011313..216017858 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216219763)_(216262491_?)del deletion not provided [RCV001951520] Chr1:216219763..216262491 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.11:g.216418542_216418680del deletion not provided [RCV001972533] Chr1:216418541..216418679 [GRCh38]
Chr1:216591883..216592021 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13392G>A (p.Trp4464Ter) single nucleotide variant not provided [RCV001951577] Chr1:215674519 [GRCh38]
Chr1:215847861 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5668G>A (p.Gly1890Arg) single nucleotide variant not provided [RCV001918964] Chr1:216073205 [GRCh38]
Chr1:216246547 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4081+1_4081+9del deletion not provided [RCV002030619] Chr1:216198306..216198314 [GRCh38]
Chr1:216371648..216371656 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15104_15105del (p.Thr5035fs) microsatellite Retinitis pigmentosa 39 [RCV003464315]|not provided [RCV001972686] Chr1:215634651..215634652 [GRCh38]
Chr1:215807993..215807994 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9723C>G (p.Tyr3241Ter) single nucleotide variant not provided [RCV001878847] Chr1:215813752 [GRCh38]
Chr1:215987094 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5818del (p.Val1940fs) deletion not provided [RCV001920459] Chr1:216072928 [GRCh38]
Chr1:216246270 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1153_1157del (p.Ile385fs) deletion not provided [RCV001955655] Chr1:216324339..216324343 [GRCh38]
Chr1:216497681..216497685 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6673G>A (p.Gly2225Arg) single nucleotide variant not provided [RCV001978509] Chr1:215993152 [GRCh38]
Chr1:216166494 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9299G>A (p.Gly3100Glu) single nucleotide variant not provided [RCV002046755] Chr1:215838063 [GRCh38]
Chr1:216011405 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.577G>C (p.Gly193Arg) single nucleotide variant not provided [RCV002011631] Chr1:216418588 [GRCh38]
Chr1:216591930 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13193C>T (p.Ser4398Phe) single nucleotide variant not provided [RCV001933852] Chr1:215674718 [GRCh38]
Chr1:215848060 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6791C>G (p.Pro2264Arg) single nucleotide variant not provided [RCV002050805] Chr1:215993034 [GRCh38]
Chr1:216166376 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003453895]|Usher syndrome type 2A [RCV003453894]|not provided [RCV001995009] Chr1:215888713 [GRCh38]
Chr1:216062055 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11074A>G (p.Ile3692Val) single nucleotide variant not provided [RCV001904410] Chr1:215759817 [GRCh38]
Chr1:215933159 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14582+5T>C single nucleotide variant not provided [RCV001974025] Chr1:215648523 [GRCh38]
Chr1:215821865 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11987C>G (p.Ser3996Cys) single nucleotide variant not provided [RCV001989833] Chr1:215728109 [GRCh38]
Chr1:215901451 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8632A>G (p.Asn2878Asp) single nucleotide variant not provided [RCV001879004] Chr1:215877807 [GRCh38]
Chr1:216051149 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7856C>A (p.Thr2619Lys) single nucleotide variant not provided [RCV002049597] Chr1:215888793 [GRCh38]
Chr1:216062135 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1984_2031dup (p.Cys662_Gln677dup) duplication not provided [RCV002050858] Chr1:216251038..216251039 [GRCh38]
Chr1:216424380..216424381 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215844294)_(215848978_?)del deletion not provided [RCV001956435] Chr1:215844294..215848978 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12738T>A (p.Ala4246=) single nucleotide variant not provided [RCV001977392] Chr1:215675173 [GRCh38]
Chr1:215848515 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3387T>A (p.Asn1129Lys) single nucleotide variant not provided [RCV001903125] Chr1:216200051 [GRCh38]
Chr1:216373393 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4820G>A (p.Trp1607Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003471086]|not provided [RCV001957632] Chr1:216089078 [GRCh38]
Chr1:216262420 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.9312del (p.Thr3105fs) deletion not provided [RCV001870464] Chr1:215838050 [GRCh38]
Chr1:216011392 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11806A>C (p.Thr3936Pro) single nucleotide variant not provided [RCV002026997] Chr1:215728290 [GRCh38]
Chr1:215901632 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3620T>A (p.Ile1207Asn) single nucleotide variant not provided [RCV001897968] Chr1:216199818 [GRCh38]
Chr1:216373160 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5680A>G (p.Thr1894Ala) single nucleotide variant not provided [RCV001954389] Chr1:216073193 [GRCh38]
Chr1:216246535 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12383A>G (p.Tyr4128Cys) single nucleotide variant not provided [RCV001975575] Chr1:215675528 [GRCh38]
Chr1:215848870 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met) inversion Retinitis pigmentosa 39 [RCV003452159]|Usher syndrome type 2A [RCV003452158]|not provided [RCV001935815] Chr1:215675299..215675300 [GRCh38]
Chr1:215848641..215848642 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5306T>C (p.Leu1769Pro) single nucleotide variant not provided [RCV002051493] Chr1:216078355 [GRCh38]
Chr1:216251697 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.428A>G (p.Lys143Arg) single nucleotide variant not provided [RCV001882302] Chr1:216421909 [GRCh38]
Chr1:216595251 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.2798A>G (p.Gln933Arg) single nucleotide variant not provided [RCV001898074] Chr1:216246596 [GRCh38]
Chr1:216419938 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12591A>T (p.Gly4197=) single nucleotide variant not provided [RCV002010646] Chr1:215675320 [GRCh38]
Chr1:215848662 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NC_000001.10:g.(?_216363595)_(216374941_?)del deletion not provided [RCV002051022] Chr1:216363595..216374941 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11829_11851del (p.Arg3943fs) deletion not provided [RCV001903829] Chr1:215728245..215728267 [GRCh38]
Chr1:215901587..215901609 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12725C>T (p.Thr4242Ile) single nucleotide variant not provided [RCV001975448] Chr1:215675186 [GRCh38]
Chr1:215848528 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6211_6212dup (p.Leu2071fs) duplication not provided [RCV001900640] Chr1:216046543..216046544 [GRCh38]
Chr1:216219885..216219886 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003451981]|Usher syndrome type 2A [RCV002478103]|Usher syndrome type 2A [RCV003451980]|not provided [RCV002047005] Chr1:216078218 [GRCh38]
Chr1:216251560 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3245C>T (p.Ala1082Val) single nucleotide variant not provided [RCV002028424] Chr1:216207344 [GRCh38]
Chr1:216380686 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala) single nucleotide variant Retinitis pigmentosa 39 [RCV003453820]|Usher syndrome type 2A [RCV003453819]|not provided [RCV001953304] Chr1:215647678 [GRCh38]
Chr1:215821020 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7325G>C (p.Arg2442Thr) single nucleotide variant not provided [RCV002051023] Chr1:215900881 [GRCh38]
Chr1:216074223 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7073T>C (p.Leu2358Pro) single nucleotide variant not provided [RCV001957121] Chr1:215965364 [GRCh38]
Chr1:216138706 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12546T>G (p.Asn4182Lys) single nucleotide variant not provided [RCV001900661] Chr1:215675365 [GRCh38]
Chr1:215848707 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7852T>C (p.Trp2618Arg) single nucleotide variant not provided [RCV001900803] Chr1:215888797 [GRCh38]
Chr1:216062139 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10046A>G (p.Lys3349Arg) single nucleotide variant not provided [RCV002049728] Chr1:215790195 [GRCh38]
Chr1:215963537 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2695A>T (p.Met899Leu) single nucleotide variant not provided [RCV001876647] Chr1:216246699 [GRCh38]
Chr1:216420041 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6785C>G (p.Thr2262Ser) single nucleotide variant not provided [RCV001897033] Chr1:215993040 [GRCh38]
Chr1:216166382 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2714del (p.Leu905fs) deletion not provided [RCV001877846] Chr1:216246680 [GRCh38]
Chr1:216420022 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13507G>A (p.Val4503Met) single nucleotide variant not provided [RCV001971963] Chr1:215674404 [GRCh38]
Chr1:215847746 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1126G>T (p.Glu376Ter) single nucleotide variant not provided [RCV001953562] Chr1:216325322 [GRCh38]
Chr1:216498664 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15393_15394insGG (p.Thr5132fs) insertion not provided [RCV001994577] Chr1:215628939..215628940 [GRCh38]
Chr1:215802281..215802282 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5284C>T (p.Pro1762Ser) single nucleotide variant not provided [RCV001921406] Chr1:216083470 [GRCh38]
Chr1:216256812 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.860A>C (p.Glu287Ala) single nucleotide variant not provided [RCV001978788] Chr1:216325588 [GRCh38]
Chr1:216498930 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8216C>T (p.Ala2739Val) single nucleotide variant not provided [RCV001876767] Chr1:215888433 [GRCh38]
Chr1:216061775 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1762A>T (p.Ile588Phe) single nucleotide variant not provided [RCV001919528] Chr1:216292253 [GRCh38]
Chr1:216465595 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14777_14783del (p.Thr4926fs) deletion not provided [RCV001930258] Chr1:215647530..215647536 [GRCh38]
Chr1:215820872..215820878 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5436A>G (p.Ile1812Met) single nucleotide variant not provided [RCV001897093] Chr1:216078225 [GRCh38]
Chr1:216251567 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5737G>C (p.Glu1913Gln) single nucleotide variant not provided [RCV001915809] Chr1:216073136 [GRCh38]
Chr1:216246478 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2531G>A (p.Cys844Tyr) single nucleotide variant not provided [RCV001917127] Chr1:216246863 [GRCh38]
Chr1:216420205 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5573-2A>G single nucleotide variant not provided [RCV001953615] Chr1:216073302 [GRCh38]
Chr1:216246644 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215987058)_(215987266_?)del deletion not provided [RCV001953665] Chr1:215987058..215987266 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216538275)_(216596610_?)del deletion not provided [RCV001953669] Chr1:216538275..216596610 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9425G>A (p.Gly3142Glu) single nucleotide variant not provided [RCV001978216] Chr1:215817142 [GRCh38]
Chr1:215990484 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14487del (p.Ser4830fs) deletion not provided [RCV001922659] Chr1:215648623 [GRCh38]
Chr1:215821965 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6657+2T>G single nucleotide variant not provided [RCV002033075] Chr1:215998885 [GRCh38]
Chr1:216172227 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11630C>T (p.Ala3877Val) single nucleotide variant not provided [RCV002046064] Chr1:215741456 [GRCh38]
Chr1:215914798 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8027C>T (p.Pro2676Leu) single nucleotide variant not provided [RCV001931731] Chr1:215888622 [GRCh38]
Chr1:216061964 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1118T>C (p.Val373Ala) single nucleotide variant not provided [RCV001899640] Chr1:216325330 [GRCh38]
Chr1:216498672 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11488C>G (p.Leu3830Val) single nucleotide variant not provided [RCV002009623] Chr1:215743237 [GRCh38]
Chr1:215916579 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12271A>T (p.Met4091Leu) single nucleotide variant not provided [RCV001933015] Chr1:215680172 [GRCh38]
Chr1:215853514 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6761C>T (p.Pro2254Leu) single nucleotide variant not provided [RCV001933068] Chr1:215993064 [GRCh38]
Chr1:216166406 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3676G>T (p.Gly1226Trp) single nucleotide variant not provided [RCV001974704] Chr1:216199762 [GRCh38]
Chr1:216373104 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5835_5836dup (p.Arg1946fs) duplication Retinitis pigmentosa 39 [RCV003475242]|not provided [RCV001956111] Chr1:216072909..216072910 [GRCh38]
Chr1:216246251..216246252 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215820844)_(215824163_?)dup duplication not provided [RCV002051175] Chr1:215820844..215824163 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs) duplication Usher syndrome [RCV002469437]|Usher syndrome type 2A [RCV003453814]|not provided [RCV001978877] Chr1:215640640..215640641 [GRCh38]
Chr1:215813982..215813983 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.349C>A (p.His117Asn) single nucleotide variant not provided [RCV002030021] Chr1:216421988 [GRCh38]
Chr1:216595330 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2531_2532del (p.Cys844fs) deletion not provided [RCV001951068] Chr1:216246862..216246863 [GRCh38]
Chr1:216420204..216420205 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6805G>C (p.Gly2269Arg) single nucleotide variant not provided [RCV001990504] Chr1:215993020 [GRCh38]
Chr1:216166362 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.14066T>C (p.Ile4689Thr) single nucleotide variant not provided [RCV001991855] Chr1:215671039 [GRCh38]
Chr1:215844381 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215940013)_(215960226_?)dup duplication not provided [RCV002051195] Chr1:215940013..215960226 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8846-2A>T single nucleotide variant not provided [RCV001977672] Chr1:215846035 [GRCh38]
Chr1:216019377 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7771C>T (p.His2591Tyr) single nucleotide variant not provided [RCV002028976] Chr1:215888878 [GRCh38]
Chr1:216062220 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11745_11748del (p.Phe3916fs) deletion not provided [RCV001951186] Chr1:215728348..215728351 [GRCh38]
Chr1:215901690..215901693 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.60G>C (p.Leu20Phe) single nucleotide variant not provided [RCV002051240] Chr1:216422277 [GRCh38]
Chr1:216595619 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4934G>A (p.Gly1645Glu) single nucleotide variant not provided [RCV001902863] Chr1:216086772 [GRCh38]
Chr1:216260114 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6752C>T (p.Ser2251Leu) single nucleotide variant not provided [RCV002048864] Chr1:215993073 [GRCh38]
Chr1:216166415 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10960T>C (p.Tyr3654His) single nucleotide variant not provided [RCV001974794] Chr1:215766768 [GRCh38]
Chr1:215940110 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.849-3C>T single nucleotide variant not provided [RCV001919928] Chr1:216325602 [GRCh38]
Chr1:216498944 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4824T>A (p.His1608Gln) single nucleotide variant not provided [RCV001865114] Chr1:216089074 [GRCh38]
Chr1:216262416 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4922G>A (p.Gly1641Glu) single nucleotide variant not provided [RCV001973540] Chr1:216086784 [GRCh38]
Chr1:216260126 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4595G>A (p.Ser1532Asn) single nucleotide variant not provided [RCV001952586] Chr1:216175284 [GRCh38]
Chr1:216348626 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13349C>T (p.Pro4450Leu) single nucleotide variant not provided [RCV001934719] Chr1:215674562 [GRCh38]
Chr1:215847904 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6877_6878delinsTT (p.Ala2293Phe) indel not provided [RCV001993403] Chr1:215970704..215970705 [GRCh38]
Chr1:216144046..216144047 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8681G>C (p.Arg2894Thr) single nucleotide variant not provided [RCV001977188] Chr1:215877758 [GRCh38]
Chr1:216051100 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11048-14G>A single nucleotide variant not provided [RCV001956798] Chr1:215759857 [GRCh38]
Chr1:215933199 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7642A>G (p.Met2548Val) single nucleotide variant not provided [RCV001922189] Chr1:215889007 [GRCh38]
Chr1:216062349 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7670G>C (p.Arg2557Thr) single nucleotide variant not provided [RCV001952664] Chr1:215888979 [GRCh38]
Chr1:216062321 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5063G>T (p.Trp1688Leu) single nucleotide variant not provided [RCV001974854] Chr1:216084802 [GRCh38]
Chr1:216258144 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5565G>T (p.Leu1855Phe) single nucleotide variant not provided [RCV001875590] Chr1:216078096 [GRCh38]
Chr1:216251438 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1678C>T (p.Pro560Ser) single nucleotide variant not provided [RCV001898829] Chr1:216292337 [GRCh38]
Chr1:216465679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7121-1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003464335]|not provided [RCV001990744] Chr1:215934796 [GRCh38]
Chr1:216108138 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7863del (p.Ala2623fs) deletion not provided [RCV001974989] Chr1:215888786 [GRCh38]
Chr1:216062128 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7594A>T (p.Lys2532Ter) single nucleotide variant not provided [RCV001974994] Chr1:215900075 [GRCh38]
Chr1:216073417 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5314G>A (p.Gly1772Arg) single nucleotide variant not provided [RCV001921069] Chr1:216078347 [GRCh38]
Chr1:216251689 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11390-3A>C single nucleotide variant not provided [RCV001877211] Chr1:215743338 [GRCh38]
Chr1:215916680 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003452143]|Usher syndrome type 2A [RCV002484462]|Usher syndrome type 2A [RCV003452142]|not provided [RCV001918766] Chr1:215888628 [GRCh38]
Chr1:216061970 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11711+6A>G single nucleotide variant not provided [RCV001917544] Chr1:215741369 [GRCh38]
Chr1:215914711 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15391C>G (p.Gln5131Glu) single nucleotide variant not provided [RCV001973834] Chr1:215628942 [GRCh38]
Chr1:215802284 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003452002]|Usher syndrome type 2A [RCV003452001]|not provided [RCV001904244] Chr1:215625815 [GRCh38]
Chr1:215799157 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys) single nucleotide variant not provided [RCV001918828] Chr1:215671094 [GRCh38]
Chr1:215844436 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7123G>A (p.Gly2375Ser) single nucleotide variant not provided [RCV001867027] Chr1:215934793 [GRCh38]
Chr1:216108135 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter) single nucleotide variant Usher syndrome [RCV002236182]|Usher syndrome type 2A [RCV003451998]|not provided [RCV001870273] Chr1:216199892 [GRCh38]
Chr1:216373234 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12806C>T (p.Pro4269Leu) single nucleotide variant not provided [RCV002030573] Chr1:215675105 [GRCh38]
Chr1:215848447 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216011313)_(216011465_?)del deletion not provided [RCV001972599] Chr1:216011313..216011465 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1467del (p.His490fs) deletion not provided [RCV001937782] Chr1:216323557 [GRCh38]
Chr1:216496899 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9340C>A (p.Pro3114Thr) single nucleotide variant not provided [RCV001937794] Chr1:215838022 [GRCh38]
Chr1:216011364 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3849G>T (p.Leu1283=) single nucleotide variant not provided [RCV002018137] Chr1:216198547 [GRCh38]
Chr1:216371889 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1026_1029del (p.Ser343fs) microsatellite Retinitis pigmentosa 39 [RCV003471178]|not provided [RCV001972581] Chr1:216325419..216325422 [GRCh38]
Chr1:216498761..216498764 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10578del (p.Gln3526fs) deletion not provided [RCV001972594] Chr1:215782745 [GRCh38]
Chr1:215956087 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10446T>A (p.Tyr3482Ter) single nucleotide variant not provided [RCV001897763] Chr1:215782877 [GRCh38]
Chr1:215956219 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12132G>A (p.Val4044=) single nucleotide variant not provided [RCV001952956] Chr1:215680311 [GRCh38]
Chr1:215853653 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216011313)_(216074267_?)del deletion not provided [RCV001972602] Chr1:216011313..216074267 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6986C>A (p.Pro2329His) single nucleotide variant not provided [RCV001977563] Chr1:215965451 [GRCh38]
Chr1:216138793 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.3698C>G (p.Pro1233Arg) single nucleotide variant not provided [RCV001979390] Chr1:216199740 [GRCh38]
Chr1:216373082 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly) single nucleotide variant not provided [RCV001905747] Chr1:216327592 [GRCh38]
Chr1:216500934 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13232T>C (p.Leu4411Pro) single nucleotide variant not provided [RCV001899219] Chr1:215674679 [GRCh38]
Chr1:215848021 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14534C>T (p.Ala4845Val) single nucleotide variant not provided [RCV002049342] Chr1:215648576 [GRCh38]
Chr1:215821918 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13791C>A (p.Asn4597Lys) single nucleotide variant not provided [RCV002018801] Chr1:215674120 [GRCh38]
Chr1:215847462 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12728G>A (p.Trp4243Ter) single nucleotide variant not provided [RCV001940914] Chr1:215675183 [GRCh38]
Chr1:215848525 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6481A>G (p.Ile2161Val) single nucleotide variant not provided [RCV001995709] Chr1:216000407 [GRCh38]
Chr1:216173749 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10675C>T (p.Pro3559Ser) single nucleotide variant not provided [RCV001925690] Chr1:215782107 [GRCh38]
Chr1:215955449 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8862del (p.Gly2955fs) deletion not provided [RCV001989944] Chr1:215846017 [GRCh38]
Chr1:216019359 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9484G>A (p.Asp3162Asn) single nucleotide variant not provided [RCV001975489] Chr1:215817083 [GRCh38]
Chr1:215990425 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12974C>G (p.Pro4325Arg) single nucleotide variant not provided [RCV001996525] Chr1:215674937 [GRCh38]
Chr1:215848279 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216465497)_(216501016_?)del deletion not provided [RCV001959175] Chr1:216465497..216501016 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003453825]|Usher syndrome type 2A [RCV003453824]|not provided [RCV001981806]|not specified [RCV002246608] Chr1:215790259 [GRCh38]
Chr1:215963601 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5498T>A (p.Val1833Glu) single nucleotide variant not provided [RCV001998868] Chr1:216078163 [GRCh38]
Chr1:216251505 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003453978]|Usher syndrome type 2A [RCV002479814]|Usher syndrome type 2A [RCV003453977]|not provided [RCV002030950] Chr1:215675595 [GRCh38]
Chr1:215848937 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9740-17T>G single nucleotide variant not provided [RCV002011890] Chr1:215799142 [GRCh38]
Chr1:215972484 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6806G>C (p.Gly2269Ala) single nucleotide variant not provided [RCV001991282] Chr1:215970776 [GRCh38]
Chr1:216144118 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7156G>C (p.Val2386Leu) single nucleotide variant not provided [RCV001933981] Chr1:215934760 [GRCh38]
Chr1:216108102 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1645-18T>A single nucleotide variant not provided [RCV001995798] Chr1:216292388 [GRCh38]
Chr1:216465730 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4028A>C (p.Asn1343Thr) single nucleotide variant not provided [RCV001978766] Chr1:216198368 [GRCh38]
Chr1:216371710 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.929G>A (p.Arg310Gln) single nucleotide variant not provided [RCV002018940] Chr1:216325519 [GRCh38]
Chr1:216498861 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14257G>A (p.Val4753Ile) single nucleotide variant not provided [RCV001885823] Chr1:215650678 [GRCh38]
Chr1:215824020 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.404G>T (p.Cys135Phe) single nucleotide variant not provided [RCV001940906] Chr1:216421933 [GRCh38]
Chr1:216595275 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2996G>T (p.Cys999Phe) single nucleotide variant Usher syndrome type 2 [RCV002307831]|not provided [RCV001999472] Chr1:216217548 [GRCh38]
Chr1:216390890 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.11955G>A (p.Trp3985Ter) single nucleotide variant not provided [RCV001898191] Chr1:215728141 [GRCh38]
Chr1:215901483 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12701C>G (p.Thr4234Arg) single nucleotide variant not provided [RCV001867504] Chr1:215675210 [GRCh38]
Chr1:215848552 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser) single nucleotide variant Usher syndrome type 2A [RCV002246593]|not provided [RCV001920814] Chr1:216251085 [GRCh38]
Chr1:216424427 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.2746A>G (p.Ile916Val) single nucleotide variant not provided [RCV001902956] Chr1:216246648 [GRCh38]
Chr1:216419990 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4636G>C (p.Ala1546Pro) single nucleotide variant not provided [RCV001994906] Chr1:216097205 [GRCh38]
Chr1:216270547 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13738A>T (p.Ile4580Leu) single nucleotide variant not provided [RCV002016467] Chr1:215674173 [GRCh38]
Chr1:215847515 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1358C>T (p.Thr453Ile) single nucleotide variant not provided [RCV001937988] Chr1:216323666 [GRCh38]
Chr1:216497008 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13888A>G (p.Ile4630Val) single nucleotide variant not provided [RCV001979566] Chr1:215671217 [GRCh38]
Chr1:215844559 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8710G>C (p.Val2904Leu) single nucleotide variant not provided [RCV001981341] Chr1:215867142 [GRCh38]
Chr1:216040484 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.829C>G (p.Gln277Glu) single nucleotide variant not provided [RCV001940393] Chr1:216327610 [GRCh38]
Chr1:216500952 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12820G>A (p.Val4274Ile) single nucleotide variant not provided [RCV001925835] Chr1:215675091 [GRCh38]
Chr1:215848433 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2100G>T (p.Gly700=) single nucleotide variant not provided [RCV001982391] Chr1:216250970 [GRCh38]
Chr1:216424312 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.731G>A (p.Gly244Asp) single nucleotide variant not provided [RCV002010818] Chr1:216365006 [GRCh38]
Chr1:216538348 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3025G>A (p.Ala1009Thr) single nucleotide variant not provided [RCV001991402] Chr1:216217519 [GRCh38]
Chr1:216390861 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003453877]|Usher syndrome type 2A [RCV002497885]|Usher syndrome type 2A [RCV003453876]|not provided [RCV001956100] Chr1:215648621 [GRCh38]
Chr1:215821963 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14110_14111insA (p.Pro4704fs) insertion not provided [RCV001956101] Chr1:215670994..215670995 [GRCh38]
Chr1:215844336..215844337 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12525G>A (p.Trp4175Ter) single nucleotide variant not provided [RCV001978911] Chr1:215675386 [GRCh38]
Chr1:215848728 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11113C>T (p.Pro3705Ser) single nucleotide variant not provided [RCV001979590] Chr1:215759778 [GRCh38]
Chr1:215933120 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2297G>A (p.Cys766Tyr) single nucleotide variant not provided [RCV001981361] Chr1:216247097 [GRCh38]
Chr1:216420439 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.9724G>A (p.Ala3242Thr) single nucleotide variant not provided [RCV002025987] Chr1:215813751 [GRCh38]
Chr1:215987093 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003453903]|Usher syndrome type 2A [RCV003453902]|not provided [RCV001973223] Chr1:216247209 [GRCh38]
Chr1:216420551 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3311C>G (p.Pro1104Arg) single nucleotide variant not provided [RCV001975734] Chr1:216207278 [GRCh38]
Chr1:216380620 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3991C>T (p.Pro1331Ser) single nucleotide variant not provided [RCV001954834] Chr1:216198405 [GRCh38]
Chr1:216371747 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10133C>T (p.Pro3378Leu) single nucleotide variant not provided [RCV001921811] Chr1:215790108 [GRCh38]
Chr1:215963450 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12006C>A (p.Tyr4002Ter) single nucleotide variant not provided [RCV001978928] Chr1:215728090 [GRCh38]
Chr1:215901432 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.907C>A (p.Arg303Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003471091]|Usher syndrome [RCV003324571]|Usher syndrome type 2A [RCV003453815]|not provided [RCV001939275] Chr1:216325541 [GRCh38]
Chr1:216498883 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003452131]|Usher syndrome type 2A [RCV003452130]|not provided [RCV001906598] Chr1:215888640 [GRCh38]
Chr1:216061982 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7216del (p.Thr2406fs) deletion not provided [RCV001960557] Chr1:215934700 [GRCh38]
Chr1:216108042 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12202G>A (p.Gly4068Arg) single nucleotide variant not provided [RCV001864840] Chr1:215680241 [GRCh38]
Chr1:215853583 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3158C>A (p.Thr1053Asn) single nucleotide variant not provided [RCV001917078] Chr1:216207431 [GRCh38]
Chr1:216380773 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15286del (p.Glu5096fs) deletion not provided [RCV001953558] Chr1:215634470 [GRCh38]
Chr1:215807812 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11103T>A (p.Tyr3701Ter) single nucleotide variant not provided [RCV001953584] Chr1:215759788 [GRCh38]
Chr1:215933130 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11248G>A (p.Glu3750Lys) single nucleotide variant not provided [RCV001975848] Chr1:215758736 [GRCh38]
Chr1:215932078 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10042A>G (p.Ile3348Val) single nucleotide variant not provided [RCV001918312] Chr1:215790199 [GRCh38]
Chr1:215963541 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9602_9611del (p.Lys3201fs) deletion Usher syndrome type 2 [RCV002307794]|not provided [RCV001932951] Chr1:215813864..215813873 [GRCh38]
Chr1:215987206..215987215 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8725G>A (p.Gly2909Ser) single nucleotide variant not provided [RCV001924136] Chr1:215867127 [GRCh38]
Chr1:216040469 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1978G>A (p.Gly660Arg) single nucleotide variant not provided [RCV001974597] Chr1:216251092 [GRCh38]
Chr1:216424434 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.7489G>A (p.Val2497Met) single nucleotide variant not provided [RCV001897133] Chr1:215900180 [GRCh38]
Chr1:216073522 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5768C>T (p.Pro1923Leu) single nucleotide variant not provided [RCV001990401] Chr1:216073105 [GRCh38]
Chr1:216246447 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216164627)_(216166453_?)del deletion not provided [RCV001953682] Chr1:216164627..216166453 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2250C>A (p.Asn750Lys) single nucleotide variant not provided [RCV001880852] Chr1:216247144 [GRCh38]
Chr1:216420486 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11548+4A>G single nucleotide variant not provided [RCV001995120] Chr1:215743173 [GRCh38]
Chr1:215916515 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6932C>T (p.Ala2311Val) single nucleotide variant not provided [RCV001939326] Chr1:215970650 [GRCh38]
Chr1:216143992 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4758+1del deletion not provided [RCV001960632] Chr1:216097082 [GRCh38]
Chr1:216270424 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14941C>A (p.Leu4981Ile) single nucleotide variant not provided [RCV001885985] Chr1:215640585 [GRCh38]
Chr1:215813927 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14300T>C (p.Leu4767Pro) single nucleotide variant not provided [RCV001907203] Chr1:215650635 [GRCh38]
Chr1:215823977 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1185G>A (p.Thr395=) single nucleotide variant not provided [RCV001866676] Chr1:216324311 [GRCh38]
Chr1:216497653 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8401G>T (p.Gly2801Trp) single nucleotide variant not provided [RCV001898620] Chr1:215878921 [GRCh38]
Chr1:216052263 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9448T>A (p.Trp3150Arg) single nucleotide variant not provided [RCV001879451] Chr1:215817119 [GRCh38]
Chr1:215990461 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9613C>T (p.Arg3205Cys) single nucleotide variant not provided [RCV002026296] Chr1:215813862 [GRCh38]
Chr1:215987204 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14134-3169A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003446982]|Retinitis pigmentosa [RCV003324580]|Usher syndrome [RCV003324581]|Usher syndrome type 2A [RCV003446981]|not provided [RCV001989163] Chr1:215653970 [GRCh38]
Chr1:215827312 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.2393A>G (p.Asp798Gly) single nucleotide variant not provided [RCV002013737] Chr1:216247001 [GRCh38]
Chr1:216420343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8549C>T (p.Pro2850Leu) single nucleotide variant not provided [RCV002017385] Chr1:215878773 [GRCh38]
Chr1:216052115 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.764A>C (p.Gln255Pro) single nucleotide variant not provided [RCV001980336] Chr1:216364973 [GRCh38]
Chr1:216538315 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7956C>T (p.Gly2652=) single nucleotide variant not provided [RCV002035893] Chr1:215888693 [GRCh38]
Chr1:216062035 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13268C>T (p.Ala4423Val) single nucleotide variant not provided [RCV001961234] Chr1:215674643 [GRCh38]
Chr1:215847985 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628-8C>A single nucleotide variant not provided [RCV002009802] Chr1:216097221 [GRCh38]
Chr1:216270563 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15599C>A (p.Thr5200Asn) single nucleotide variant not provided [RCV001899945] Chr1:215625791 [GRCh38]
Chr1:215799133 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.799G>T (p.Val267Phe) single nucleotide variant not provided [RCV002028978] Chr1:216327640 [GRCh38]
Chr1:216500982 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15520-8T>G single nucleotide variant not provided [RCV001903337] Chr1:215625878 [GRCh38]
Chr1:215799220 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3726_3730del (p.Pro1243fs) deletion not provided [RCV002035318] Chr1:216199708..216199712 [GRCh38]
Chr1:216373050..216373054 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9881_9882insT (p.Cys3295fs) insertion not provided [RCV001939442] Chr1:215798983..215798984 [GRCh38]
Chr1:215972325..215972326 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14231A>C (p.His4744Pro) single nucleotide variant not provided [RCV001931997] Chr1:215650704 [GRCh38]
Chr1:215824046 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15092G>A (p.Arg5031Gln) single nucleotide variant not provided [RCV002029067] Chr1:215634664 [GRCh38]
Chr1:215808006 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10756A>T (p.Thr3586Ser) single nucleotide variant not provided [RCV001901359] Chr1:215780026 [GRCh38]
Chr1:215953368 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14468G>T (p.Arg4823Ile) single nucleotide variant not provided [RCV001978206] Chr1:215648642 [GRCh38]
Chr1:215821984 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9968G>T (p.Cys3323Phe) single nucleotide variant not provided [RCV001959511] Chr1:215790273 [GRCh38]
Chr1:215963615 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8988_8989insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGTATTGGATCTTT (p.Ile2997delinsPhePhePhePhePhePheXaaXaaXaaXaaAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer) insertion not provided [RCV001938885] Chr1:215845890..215845891 [GRCh38]
Chr1:216019232..216019233 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7040del (p.Val2347fs) deletion not provided [RCV001924331] Chr1:215965397 [GRCh38]
Chr1:216138739 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3189A>C (p.Gln1063His) single nucleotide variant not provided [RCV001917521] Chr1:216207400 [GRCh38]
Chr1:216380742 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5239G>A (p.Asp1747Asn) single nucleotide variant not provided [RCV001902572] Chr1:216083515 [GRCh38]
Chr1:216256857 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9259-3C>A single nucleotide variant not provided [RCV001905006] Chr1:215838106 [GRCh38]
Chr1:216011448 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14309dup (p.Phe4771fs) duplication not provided [RCV001958962] Chr1:215650625..215650626 [GRCh38]
Chr1:215823967..215823968 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10626del (p.Glu3542fs) deletion not provided [RCV001926140] Chr1:215782156 [GRCh38]
Chr1:215955498 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215901362)_(215901736_?)del deletion not provided [RCV001951450] Chr1:215901362..215901736 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6240G>C (p.Lys2080Asn) single nucleotide variant not provided [RCV001875744] Chr1:216046516 [GRCh38]
Chr1:216219858 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5957A>G (p.Lys1986Arg) single nucleotide variant not provided [RCV001882033] Chr1:216070193 [GRCh38]
Chr1:216243535 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8661T>G (p.Tyr2887Ter) single nucleotide variant not provided [RCV001958979] Chr1:215877778 [GRCh38]
Chr1:216051120 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11712-3C>G single nucleotide variant not provided [RCV002018697] Chr1:215728387 [GRCh38]
Chr1:215901729 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3266del (p.Leu1089fs) deletion not provided [RCV002035429] Chr1:216207323 [GRCh38]
Chr1:216380665 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3713C>G (p.Thr1238Arg) single nucleotide variant not provided [RCV001990936] Chr1:216199725 [GRCh38]
Chr1:216373067 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8681+14A>G single nucleotide variant not provided [RCV002010119] Chr1:215877744 [GRCh38]
Chr1:216051086 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.633G>T (p.Trp211Cys) single nucleotide variant not provided [RCV001918937] Chr1:216418532 [GRCh38]
Chr1:216591874 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14134-5T>C single nucleotide variant not provided [RCV001921364] Chr1:215650806 [GRCh38]
Chr1:215824148 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9142G>A (p.Gly3048Ser) single nucleotide variant not provided [RCV001978426] Chr1:215844410 [GRCh38]
Chr1:216017752 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6266G>A (p.Cys2089Tyr) single nucleotide variant not provided [RCV001975452] Chr1:216046490 [GRCh38]
Chr1:216219832 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.91A>G (p.Thr31Ala) single nucleotide variant not provided [RCV001930943] Chr1:216422246 [GRCh38]
Chr1:216595588 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5983dup (p.Asp1995fs) duplication not provided [RCV001953447] Chr1:216070166..216070167 [GRCh38]
Chr1:216243508..216243509 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13730C>G (p.Thr4577Ser) single nucleotide variant not provided [RCV001994235] Chr1:215674181 [GRCh38]
Chr1:215847523 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6872A>G (p.Tyr2291Cys) single nucleotide variant not provided [RCV001957333] Chr1:215970710 [GRCh38]
Chr1:216144052 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13811+18G>A single nucleotide variant not provided [RCV001959009] Chr1:215674082 [GRCh38]
Chr1:215847424 [GRCh37]
Chr1:1q41
likely benign
NC_000001.10:g.(?_216348574)_(216373483_?)del deletion not provided [RCV001959169] Chr1:216348574..216373483 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.358G>A (p.Ala120Thr) single nucleotide variant not provided [RCV001991560] Chr1:216421979 [GRCh38]
Chr1:216595321 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15094A>G (p.Ser5032Gly) single nucleotide variant not provided [RCV002031369] Chr1:215634662 [GRCh38]
Chr1:215808004 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14208_14212del (p.Glu4736fs) deletion not provided [RCV002014893] Chr1:215650723..215650727 [GRCh38]
Chr1:215824065..215824069 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6779C>A (p.Ser2260Tyr) single nucleotide variant not provided [RCV001925317] Chr1:215993046 [GRCh38]
Chr1:216166388 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5528C>T (p.Pro1843Leu) single nucleotide variant not provided [RCV001925319] Chr1:216078133 [GRCh38]
Chr1:216251475 [GRCh37]
Chr1:1q41
pathogenic|uncertain significance
NM_206933.4(USH2A):c.116G>A (p.Arg39Lys) single nucleotide variant not provided [RCV001905276] Chr1:216422221 [GRCh38]
Chr1:216595563 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10312G>C (p.Ala3438Pro) single nucleotide variant not provided [RCV001923994] Chr1:215786745 [GRCh38]
Chr1:215960087 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8096G>C (p.Arg2699Pro) single nucleotide variant not provided [RCV001938633] Chr1:215888553 [GRCh38]
Chr1:216061895 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7862del (p.Pro2621fs) deletion Usher syndrome [RCV003155437]|Usher syndrome type 2A [RCV003452062]|not provided [RCV001884003] Chr1:215888787 [GRCh38]
Chr1:216062129 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10514C>T (p.Pro3505Leu) single nucleotide variant not provided [RCV001882180] Chr1:215782809 [GRCh38]
Chr1:215956151 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216138639)_(216144138_?)dup duplication not provided [RCV001925679] Chr1:216138639..216144138 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003452168]|Usher syndrome type 2A [RCV003452167]|not provided [RCV001940470] Chr1:215758634 [GRCh38]
Chr1:215931976 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14152G>C (p.Ala4718Pro) single nucleotide variant not provided [RCV001980408] Chr1:215650783 [GRCh38]
Chr1:215824125 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216595184)_(216596610_?)del deletion not provided [RCV001959788] Chr1:216595184..216596610 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216348570)_(216538437_?)dup duplication not provided [RCV002035221] Chr1:216348570..216538437 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5879C>T (p.Pro1960Leu) single nucleotide variant not provided [RCV001997953] Chr1:216070271 [GRCh38]
Chr1:216243613 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4586A>G (p.Lys1529Arg) single nucleotide variant not provided [RCV001960212] Chr1:216175293 [GRCh38]
Chr1:216348635 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.815del (p.Asp272fs) deletion not provided [RCV001939566] Chr1:216327624 [GRCh38]
Chr1:216500966 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7188G>T (p.Trp2396Cys) single nucleotide variant not provided [RCV001960348] Chr1:215934728 [GRCh38]
Chr1:216108070 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12634G>T (p.Val4212Phe) single nucleotide variant not provided [RCV001981257] Chr1:215675277 [GRCh38]
Chr1:215848619 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15552C>G (p.Ile5184Met) single nucleotide variant not provided [RCV001997315] Chr1:215625838 [GRCh38]
Chr1:215799180 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003453938]|Usher syndrome type 2A [RCV002492280]|Usher syndrome type 2A [RCV003453937]|not provided [RCV001980846] Chr1:215759685 [GRCh38]
Chr1:215933027 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14842T>C (p.Cys4948Arg) single nucleotide variant not provided [RCV001924343] Chr1:215640684 [GRCh38]
Chr1:215814026 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9640T>C (p.Phe3214Leu) single nucleotide variant not provided [RCV001906115] Chr1:215813835 [GRCh38]
Chr1:215987177 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10414T>A (p.Tyr3472Asn) single nucleotide variant not provided [RCV001885818] Chr1:215782909 [GRCh38]
Chr1:215956251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8885T>C (p.Leu2962Pro) single nucleotide variant not provided [RCV002018203] Chr1:215845994 [GRCh38]
Chr1:216019336 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3956del (p.Pro1319fs) deletion not provided [RCV002035337] Chr1:216198440 [GRCh38]
Chr1:216371782 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6949G>C (p.Gly2317Arg) single nucleotide variant not provided [RCV002036260] Chr1:215970633 [GRCh38]
Chr1:216143975 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.1757_1758insATA (p.Tyr586Ter) insertion not provided [RCV001992516] Chr1:216292257..216292258 [GRCh38]
Chr1:216465599..216465600 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215798669)_(215799151_?)del deletion not provided [RCV001976389] Chr1:215798669..215799151 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15416G>A (p.Gly5139Asp) single nucleotide variant not provided [RCV001957606] Chr1:215628917 [GRCh38]
Chr1:215802259 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5222C>T (p.Ser1741Phe) single nucleotide variant not provided [RCV002016300] Chr1:216083532 [GRCh38]
Chr1:216256874 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.551C>A (p.Thr184Asn) single nucleotide variant not provided [RCV002019166] Chr1:216418614 [GRCh38]
Chr1:216591956 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216465497)_(216465732_?)del deletion not provided [RCV001981922] Chr1:216465497..216465732 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6674G>A (p.Gly2225Glu) single nucleotide variant not provided [RCV001907096] Chr1:215993151 [GRCh38]
Chr1:216166493 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14273dup (p.Gly4759fs) duplication not provided [RCV001924362] Chr1:215650661..215650662 [GRCh38]
Chr1:215824003..215824004 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215853471)_(215956297_?)del deletion not provided [RCV001953678] Chr1:215853471..215956297 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11404_11405insT (p.Glu3802fs) insertion not provided [RCV001899875] Chr1:215743320..215743321 [GRCh38]
Chr1:215916662..215916663 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10141T>C (p.Tyr3381His) single nucleotide variant not provided [RCV001915658] Chr1:215790100 [GRCh38]
Chr1:215963442 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10437G>A (p.Trp3479Ter) single nucleotide variant not provided [RCV001899733] Chr1:215782886 [GRCh38]
Chr1:215956228 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12066+1G>A single nucleotide variant not provided [RCV002029660] Chr1:215728029 [GRCh38]
Chr1:215901371 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9857T>C (p.Leu3286Pro) single nucleotide variant not provided [RCV002015215] Chr1:215799008 [GRCh38]
Chr1:215972350 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464309]|Usher syndrome [RCV002469440]|Usher syndrome type 2A [RCV003453869]|not provided [RCV001950926] Chr1:216196587 [GRCh38]
Chr1:216369929 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12294+2T>C single nucleotide variant not provided [RCV001898081] Chr1:215680147 [GRCh38]
Chr1:215853489 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13951C>G (p.Pro4651Ala) single nucleotide variant not provided [RCV001917654] Chr1:215671154 [GRCh38]
Chr1:215844496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14305A>G (p.Arg4769Gly) single nucleotide variant not provided [RCV001867853] Chr1:215650630 [GRCh38]
Chr1:215823972 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9209G>A (p.Gly3070Glu) single nucleotide variant not provided [RCV002015064] Chr1:215844343 [GRCh38]
Chr1:216017685 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.166G>A (p.Ala56Thr) single nucleotide variant not provided [RCV001922538] Chr1:216422171 [GRCh38]
Chr1:216595513 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4885+5G>A single nucleotide variant not provided [RCV001973185] Chr1:216089008 [GRCh38]
Chr1:216262350 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5012G>T (p.Gly1671Val) single nucleotide variant not provided [RCV001974864] Chr1:216084853 [GRCh38]
Chr1:216258195 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2111G>A (p.Gly704Glu) single nucleotide variant not provided [RCV002030760] Chr1:216250959 [GRCh38]
Chr1:216424301 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13111C>G (p.Gln4371Glu) single nucleotide variant not provided [RCV002033180] Chr1:215674800 [GRCh38]
Chr1:215848142 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6905del (p.His2302fs) deletion Usher syndrome type 2A [RCV003452015]|not provided [RCV001937393] Chr1:215970677 [GRCh38]
Chr1:216144019 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10584T>C (p.Asn3528=) single nucleotide variant not provided [RCV001902624] Chr1:215782739 [GRCh38]
Chr1:215956081 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3338C>T (p.Thr1113Ile) single nucleotide variant not provided [RCV001899187] Chr1:216200100 [GRCh38]
Chr1:216373442 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11023C>G (p.Gln3675Glu) single nucleotide variant not provided [RCV001935154] Chr1:215766705 [GRCh38]
Chr1:215940047 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.626A>C (p.Lys209Thr) single nucleotide variant not provided [RCV001996106] Chr1:216418539 [GRCh38]
Chr1:216591881 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4971C>G (p.Ile1657Met) single nucleotide variant not provided [RCV001923014] Chr1:216086735 [GRCh38]
Chr1:216260077 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12106T>C (p.Phe4036Leu) single nucleotide variant not provided [RCV001875365] Chr1:215680337 [GRCh38]
Chr1:215853679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12109A>C (p.Thr4037Pro) single nucleotide variant not provided [RCV001991055] Chr1:215680334 [GRCh38]
Chr1:215853676 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10750G>C (p.Ala3584Pro) single nucleotide variant not provided [RCV001880301] Chr1:215780032 [GRCh38]
Chr1:215953374 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.396C>A (p.His132Gln) single nucleotide variant not provided [RCV001973302] Chr1:216421941 [GRCh38]
Chr1:216595283 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10740+5G>A single nucleotide variant not provided [RCV001931707] Chr1:215782037 [GRCh38]
Chr1:215955379 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2945G>A (p.Cys982Tyr) single nucleotide variant not provided [RCV002027522] Chr1:216232001 [GRCh38]
Chr1:216405343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15050T>C (p.Leu5017Pro) single nucleotide variant not provided [RCV001953195] Chr1:215639157 [GRCh38]
Chr1:215812499 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14217A>T (p.Arg4739Ser) single nucleotide variant not provided [RCV002032024] Chr1:215650718 [GRCh38]
Chr1:215824060 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3308A>T (p.Tyr1103Phe) single nucleotide variant not provided [RCV001996173] Chr1:216207281 [GRCh38]
Chr1:216380623 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15465del (p.Val5156fs) deletion not provided [RCV001866406] Chr1:215628868 [GRCh38]
Chr1:215802210 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11047+6G>A single nucleotide variant not provided [RCV001974071] Chr1:215766675 [GRCh38]
Chr1:215940017 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10646T>G (p.Leu3549Arg) single nucleotide variant not provided [RCV002029116] Chr1:215782136 [GRCh38]
Chr1:215955478 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216011313)_(216019395_?)del deletion not provided [RCV001951366] Chr1:216011313..216019395 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3630G>A (p.Leu1210=) single nucleotide variant not provided [RCV001937799] Chr1:216199808 [GRCh38]
Chr1:216373150 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11232-1G>A single nucleotide variant not provided [RCV002027636] Chr1:215758753 [GRCh38]
Chr1:215932095 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11812T>C (p.Tyr3938His) single nucleotide variant not provided [RCV002017101] Chr1:215728284 [GRCh38]
Chr1:215901626 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1036A>G (p.Asn346Asp) single nucleotide variant not provided [RCV001979478] Chr1:216325412 [GRCh38]
Chr1:216498754 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12416G>T (p.Gly4139Val) single nucleotide variant not provided [RCV002009992] Chr1:215675495 [GRCh38]
Chr1:215848837 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.8324T>A (p.Val2775Glu) single nucleotide variant not provided [RCV001919829] Chr1:215878998 [GRCh38]
Chr1:216052340 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9437T>C (p.Leu3146Pro) single nucleotide variant not provided [RCV001901144] Chr1:215817130 [GRCh38]
Chr1:215990472 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11283T>A (p.Asp3761Glu) single nucleotide variant not provided [RCV001937751] Chr1:215758701 [GRCh38]
Chr1:215932043 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9122C>G (p.Thr3041Arg) single nucleotide variant not provided [RCV002026707] Chr1:215844430 [GRCh38]
Chr1:216017772 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10573A>G (p.Ile3525Val) single nucleotide variant not provided [RCV001903412] Chr1:215782750 [GRCh38]
Chr1:215956092 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12028A>G (p.Thr4010Ala) single nucleotide variant not provided [RCV002028493] Chr1:215728068 [GRCh38]
Chr1:215901410 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4696C>T (p.Gln1566Ter) single nucleotide variant not provided [RCV001993131] Chr1:216097145 [GRCh38]
Chr1:216270487 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5865A>G (p.Gln1955=) single nucleotide variant not provided [RCV001931896] Chr1:216070285 [GRCh38]
Chr1:216243627 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.15082_15083del (p.Lys5028fs) deletion not provided [RCV001955196] Chr1:215634673..215634674 [GRCh38]
Chr1:215808015..215808016 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2626G>C (p.Gly876Arg) single nucleotide variant not provided [RCV001901347] Chr1:216246768 [GRCh38]
Chr1:216420110 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10406A>G (p.Tyr3469Cys) single nucleotide variant not provided [RCV001902227] Chr1:215782917 [GRCh38]
Chr1:215956259 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter) single nucleotide variant Usher syndrome type 2A [RCV003453878]|not provided [RCV001956108] Chr1:215798991 [GRCh38]
Chr1:215972333 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216107948)_(216144128_?)del deletion not provided [RCV002051172] Chr1:216107948..216144128 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4052C>T (p.Ala1351Val) single nucleotide variant not provided [RCV001923354] Chr1:216198344 [GRCh38]
Chr1:216371686 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14344-15T>C single nucleotide variant not provided [RCV002129965] Chr1:215648781 [GRCh38]
Chr1:215822123 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4082-5G>A single nucleotide variant not provided [RCV002106964] Chr1:216196727 [GRCh38]
Chr1:216370069 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1446C>T (p.Ala482=) single nucleotide variant not provided [RCV002088853] Chr1:216323578 [GRCh38]
Chr1:216496920 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.785-8A>T single nucleotide variant not provided [RCV002073869] Chr1:216327662 [GRCh38]
Chr1:216501004 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8736G>C (p.Pro2912=) single nucleotide variant not provided [RCV002110395] Chr1:215867116 [GRCh38]
Chr1:216040458 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14697C>G (p.Leu4899=) single nucleotide variant not provided [RCV002210835] Chr1:215647616 [GRCh38]
Chr1:215820958 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9798C>T (p.Ser3266=) single nucleotide variant not provided [RCV002090005] Chr1:215799067 [GRCh38]
Chr1:215972409 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10665G>A (p.Glu3555=) single nucleotide variant not provided [RCV002190347] Chr1:215782117 [GRCh38]
Chr1:215955459 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5817A>G (p.Ser1939=) single nucleotide variant not provided [RCV002092073] Chr1:216072929 [GRCh38]
Chr1:216246271 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2167+12G>A single nucleotide variant not provided [RCV002187562] Chr1:216250891 [GRCh38]
Chr1:216424233 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3812-17C>T single nucleotide variant not provided [RCV002075407] Chr1:216198601 [GRCh38]
Chr1:216371943 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4776A>T (p.Val1592=) single nucleotide variant not provided [RCV002192160] Chr1:216089122 [GRCh38]
Chr1:216262464 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10939+19del deletion not provided [RCV002129975] Chr1:215779824 [GRCh38]
Chr1:215953166 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3162A>G (p.Pro1054=) single nucleotide variant not provided [RCV002090592] Chr1:216207427 [GRCh38]
Chr1:216380769 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9627A>G (p.Glu3209=) single nucleotide variant not provided [RCV002188765] Chr1:215813848 [GRCh38]
Chr1:215987190 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4068A>G (p.Arg1356=) single nucleotide variant not provided [RCV002167832] Chr1:216198328 [GRCh38]
Chr1:216371670 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5958G>A (p.Lys1986=) single nucleotide variant not provided [RCV002148525] Chr1:216070192 [GRCh38]
Chr1:216243534 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9740-5G>T single nucleotide variant not provided [RCV002166759] Chr1:215799130 [GRCh38]
Chr1:215972472 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8928G>A (p.Leu2976=) single nucleotide variant not provided [RCV002145184] Chr1:215845951 [GRCh38]
Chr1:216019293 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3636A>G (p.Pro1212=) single nucleotide variant not provided [RCV002208582] Chr1:216199802 [GRCh38]
Chr1:216373144 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13077C>T (p.Val4359=) single nucleotide variant not provided [RCV002108500] Chr1:215674834 [GRCh38]
Chr1:215848176 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.423T>A (p.Ser141=) single nucleotide variant not provided [RCV002166470] Chr1:216421914 [GRCh38]
Chr1:216595256 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14538C>A (p.Ser4846=) single nucleotide variant not provided [RCV002084733] Chr1:215648572 [GRCh38]
Chr1:215821914 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12432G>A (p.Ala4144=) single nucleotide variant not provided [RCV002088617] Chr1:215675479 [GRCh38]
Chr1:215848821 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6669T>G (p.Gly2223=) single nucleotide variant not provided [RCV002090514] Chr1:215993156 [GRCh38]
Chr1:216166498 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9387T>C (p.Asp3129=) single nucleotide variant not provided [RCV002146965] Chr1:215817180 [GRCh38]
Chr1:215990522 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6213G>A (p.Leu2071=) single nucleotide variant not provided [RCV002165527] Chr1:216046543 [GRCh38]
Chr1:216219885 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-14C>A single nucleotide variant not provided [RCV002147114] Chr1:215743349 [GRCh38]
Chr1:215916691 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8400T>C (p.Asn2800=) single nucleotide variant not provided [RCV002147159] Chr1:215878922 [GRCh38]
Chr1:216052264 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10586-16T>C single nucleotide variant not provided [RCV002085783] Chr1:215782212 [GRCh38]
Chr1:215955554 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2993+15G>A single nucleotide variant not provided [RCV002105582] Chr1:216231938 [GRCh38]
Chr1:216405280 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1506C>A (p.Leu502=) single nucleotide variant not provided [RCV002148856] Chr1:216323518 [GRCh38]
Chr1:216496860 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12841C>T (p.Leu4281=) single nucleotide variant not provided [RCV002075911] Chr1:215675070 [GRCh38]
Chr1:215848412 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2061T>C (p.Asp687=) single nucleotide variant not provided [RCV002091253] Chr1:216251009 [GRCh38]
Chr1:216424351 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15357G>C (p.Arg5119=) single nucleotide variant not provided [RCV002187951] Chr1:215628976 [GRCh38]
Chr1:215802318 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4081+20A>T single nucleotide variant not provided [RCV002207451] Chr1:216198295 [GRCh38]
Chr1:216371637 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15354C>T (p.Asn5118=) single nucleotide variant not provided [RCV002168535] Chr1:215628979 [GRCh38]
Chr1:215802321 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2532T>C (p.Cys844=) single nucleotide variant not provided [RCV002124292] Chr1:216246862 [GRCh38]
Chr1:216420204 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8823C>T (p.Ile2941=) single nucleotide variant not provided [RCV002088993] Chr1:215867029 [GRCh38]
Chr1:216040371 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3186A>G (p.Gly1062=) single nucleotide variant not provided [RCV002146105] Chr1:216207403 [GRCh38]
Chr1:216380745 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7300+14A>C single nucleotide variant not provided [RCV002169033] Chr1:215934602 [GRCh38]
Chr1:216107944 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1645-4C>T single nucleotide variant not provided [RCV002087736] Chr1:216292374 [GRCh38]
Chr1:216465716 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1657T>C (p.Leu553=) single nucleotide variant not provided [RCV002087775] Chr1:216292358 [GRCh38]
Chr1:216465700 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1329-12T>G single nucleotide variant not provided [RCV002090839] Chr1:216323707 [GRCh38]
Chr1:216497049 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6453G>C (p.Leu2151=) single nucleotide variant not provided [RCV002191163] Chr1:216000435 [GRCh38]
Chr1:216173777 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5776+12G>A single nucleotide variant not provided [RCV002084889] Chr1:216073085 [GRCh38]
Chr1:216246427 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11595A>G (p.Ala3865=) single nucleotide variant not provided [RCV002124322] Chr1:215741491 [GRCh38]
Chr1:215914833 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6958-5C>A single nucleotide variant not provided [RCV002168579] Chr1:215965484 [GRCh38]
Chr1:216138826 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10387+15G>A single nucleotide variant not provided [RCV002106517] Chr1:215786655 [GRCh38]
Chr1:215959997 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13221G>T (p.Leu4407=) single nucleotide variant not provided [RCV002208063] Chr1:215674690 [GRCh38]
Chr1:215848032 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7503A>G (p.Gln2501=) single nucleotide variant not provided [RCV002072454] Chr1:215900166 [GRCh38]
Chr1:216073508 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13347T>C (p.Ser4449=) single nucleotide variant not provided [RCV002168742] Chr1:215674564 [GRCh38]
Chr1:215847906 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9177T>C (p.Asn3059=) single nucleotide variant not provided [RCV002186679] Chr1:215844375 [GRCh38]
Chr1:216017717 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5397G>A (p.Lys1799=) single nucleotide variant not provided [RCV002165522] Chr1:216078264 [GRCh38]
Chr1:216251606 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2238C>T (p.Pro746=) single nucleotide variant not provided [RCV002149065] Chr1:216247156 [GRCh38]
Chr1:216420498 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.990T>C (p.Asn330=) single nucleotide variant not provided [RCV002148105] Chr1:216325458 [GRCh38]
Chr1:216498800 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1328+8T>C single nucleotide variant not provided [RCV002106268] Chr1:216324160 [GRCh38]
Chr1:216497502 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8046G>A (p.Arg2682=) single nucleotide variant not provided [RCV002072518] Chr1:215888603 [GRCh38]
Chr1:216061945 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14792-10C>T single nucleotide variant not provided [RCV002168808] Chr1:215640744 [GRCh38]
Chr1:215814086 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3477T>C (p.Pro1159=) single nucleotide variant not provided [RCV002109284] Chr1:216199961 [GRCh38]
Chr1:216373303 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12711A>G (p.Glu4237=) single nucleotide variant not provided [RCV002110973] Chr1:215675200 [GRCh38]
Chr1:215848542 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5934T>C (p.Pro1978=) single nucleotide variant not provided [RCV002110994] Chr1:216070216 [GRCh38]
Chr1:216243558 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8326T>C (p.Leu2776=) single nucleotide variant not provided [RCV002192863] Chr1:215878996 [GRCh38]
Chr1:216052338 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.485+9T>C single nucleotide variant not provided [RCV002085014] Chr1:216421843 [GRCh38]
Chr1:216595185 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11337T>C (p.Tyr3779=) single nucleotide variant not provided [RCV002144812] Chr1:215758647 [GRCh38]
Chr1:215931989 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14134-18G>T single nucleotide variant not provided [RCV002088381] Chr1:215650819 [GRCh38]
Chr1:215824161 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7554T>C (p.Ser2518=) single nucleotide variant not provided [RCV002167703] Chr1:215900115 [GRCh38]
Chr1:216073457 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14791+711C>T single nucleotide variant not provided [RCV002224821] Chr1:215646811 [GRCh38]
Chr1:215820153 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6447A>G (p.Pro2149=) single nucleotide variant not provided [RCV002072826] Chr1:216000441 [GRCh38]
Chr1:216173783 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1329-20C>T single nucleotide variant not provided [RCV002129407] Chr1:216323715 [GRCh38]
Chr1:216497057 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15298-21_15298-18del deletion not provided [RCV002106677] Chr1:215629053..215629056 [GRCh38]
Chr1:215802395..215802398 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4886-6C>T single nucleotide variant not provided [RCV002089583] Chr1:216086826 [GRCh38]
Chr1:216260168 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8973A>C (p.Thr2991=) single nucleotide variant not provided [RCV002169139] Chr1:215845906 [GRCh38]
Chr1:216019248 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2088C>T (p.Cys696=) single nucleotide variant not provided [RCV002111314] Chr1:216250982 [GRCh38]
Chr1:216424324 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3603T>C (p.His1201=) single nucleotide variant not provided [RCV002170447] Chr1:216199835 [GRCh38]
Chr1:216373177 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8163C>T (p.Pro2721=) single nucleotide variant not provided [RCV002210492] Chr1:215888486 [GRCh38]
Chr1:216061828 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-15T>G single nucleotide variant not provided [RCV002208134] Chr1:216190382 [GRCh38]
Chr1:216363724 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13389C>T (p.Thr4463=) single nucleotide variant not provided [RCV002089782] Chr1:215674522 [GRCh38]
Chr1:215847864 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14310G>T (p.Leu4770=) single nucleotide variant not provided [RCV002165755] Chr1:215650625 [GRCh38]
Chr1:215823967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7131C>T (p.Asn2377=) single nucleotide variant not provided [RCV002073659] Chr1:215934785 [GRCh38]
Chr1:216108127 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9258+10T>C single nucleotide variant not provided [RCV002205629] Chr1:215844284 [GRCh38]
Chr1:216017626 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2994-12C>A single nucleotide variant not provided [RCV002210127] Chr1:216217562 [GRCh38]
Chr1:216390904 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15301T>C (p.Leu5101=) single nucleotide variant not provided [RCV002188456] Chr1:215629032 [GRCh38]
Chr1:215802374 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.72T>C (p.Tyr24=) single nucleotide variant not provided [RCV002191839] Chr1:216422265 [GRCh38]
Chr1:216595607 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12A>G (p.Pro4=) single nucleotide variant not provided [RCV002092834] Chr1:216422325 [GRCh38]
Chr1:216595667 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11743T>C (p.Leu3915=) single nucleotide variant not provided [RCV002073792] Chr1:215728353 [GRCh38]
Chr1:215901695 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13020A>T (p.Gly4340=) single nucleotide variant not provided [RCV002130343] Chr1:215674891 [GRCh38]
Chr1:215848233 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.485+8G>C single nucleotide variant not provided [RCV002088856] Chr1:216421844 [GRCh38]
Chr1:216595186 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11706T>C (p.Ile3902=) single nucleotide variant not provided [RCV002075965] Chr1:215741380 [GRCh38]
Chr1:215914722 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6366A>C (p.Ala2122=) single nucleotide variant not provided [RCV002075245] Chr1:216000522 [GRCh38]
Chr1:216173864 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3921A>G (p.Ser1307=) single nucleotide variant not provided [RCV002190955] Chr1:216198475 [GRCh38]
Chr1:216371817 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14847G>A (p.Val4949=) single nucleotide variant not provided [RCV002191026] Chr1:215640679 [GRCh38]
Chr1:215814021 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12354C>G (p.Leu4118=) single nucleotide variant not provided [RCV002092480] Chr1:215675557 [GRCh38]
Chr1:215848899 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9819C>T (p.Tyr3273=) single nucleotide variant not provided [RCV002130354] Chr1:215799046 [GRCh38]
Chr1:215972388 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4719G>A (p.Gln1573=) single nucleotide variant not provided [RCV002208830] Chr1:216097122 [GRCh38]
Chr1:216270464 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9429T>C (p.Tyr3143=) single nucleotide variant not provided [RCV002185645] Chr1:215817138 [GRCh38]
Chr1:215990480 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1645-5T>C single nucleotide variant not provided [RCV002189084] Chr1:216292375 [GRCh38]
Chr1:216465717 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8796T>C (p.Thr2932=) single nucleotide variant not provided [RCV002168309] Chr1:215867056 [GRCh38]
Chr1:216040398 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His) single nucleotide variant Retinitis pigmentosa 39 [RCV003454038]|Usher syndrome type 2A [RCV002210905]|Usher syndrome type 2A [RCV003454037]|not provided [RCV003089107] Chr1:216097108 [GRCh38]
Chr1:216270450 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3934del (p.Ala1312fs) deletion Usher syndrome type 2A [RCV002210931] Chr1:216198462 [GRCh38]
Chr1:216371804 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15276C>T (p.Tyr5092=) single nucleotide variant not provided [RCV002165525] Chr1:215634480 [GRCh38]
Chr1:215807822 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1144-16A>T single nucleotide variant not provided [RCV002109043] Chr1:216324368 [GRCh38]
Chr1:216497710 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14127G>A (p.Glu4709=) single nucleotide variant not provided [RCV002105830] Chr1:215670978 [GRCh38]
Chr1:215844320 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5331G>T (p.Arg1777=) single nucleotide variant not provided [RCV002106405] Chr1:216078330 [GRCh38]
Chr1:216251672 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14969-19A>G single nucleotide variant not provided [RCV002087841] Chr1:215639257 [GRCh38]
Chr1:215812599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-8C>G single nucleotide variant not provided [RCV002209634] Chr1:215743343 [GRCh38]
Chr1:215916685 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3883C>A (p.Arg1295=) single nucleotide variant not provided [RCV002168112] Chr1:216198513 [GRCh38]
Chr1:216371855 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.786T>C (p.Gly262=) single nucleotide variant not provided [RCV002086937] Chr1:216327653 [GRCh38]
Chr1:216500995 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12663T>C (p.Asn4221=) single nucleotide variant not provided [RCV002205444] Chr1:215675248 [GRCh38]
Chr1:215848590 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9420T>C (p.Ile3140=) single nucleotide variant not provided [RCV002188468] Chr1:215817147 [GRCh38]
Chr1:215990489 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4686A>G (p.Ser1562=) single nucleotide variant not provided [RCV002188543] Chr1:216097155 [GRCh38]
Chr1:216270497 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3855T>C (p.Ser1285=) single nucleotide variant not provided [RCV002107497] Chr1:216198541 [GRCh38]
Chr1:216371883 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1026C>G (p.Leu342=) single nucleotide variant not provided [RCV002205253] Chr1:216325422 [GRCh38]
Chr1:216498764 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10275C>T (p.Cys3425=) single nucleotide variant not provided [RCV002205257] Chr1:215786782 [GRCh38]
Chr1:215960124 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5777-18A>C single nucleotide variant not provided [RCV002188660] Chr1:216072987 [GRCh38]
Chr1:216246329 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7269T>A (p.Thr2423=) single nucleotide variant not provided [RCV002167175] Chr1:215934647 [GRCh38]
Chr1:216107989 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15520-4dup duplication not provided [RCV002075226] Chr1:215625873..215625874 [GRCh38]
Chr1:215799215..215799216 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10388-11dup duplication not provided [RCV002109455] Chr1:215782945..215782946 [GRCh38]
Chr1:215956287..215956288 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.9393G>A (p.Val3131=) single nucleotide variant not provided [RCV002168743] Chr1:215817174 [GRCh38]
Chr1:215990516 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003454047]|Usher syndrome type 2A [RCV003454046]|not provided [RCV002224813] Chr1:216196675 [GRCh38]
Chr1:216370017 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4252-36CTTT[4] microsatellite not provided [RCV002209901] Chr1:216190380..216190387 [GRCh38]
Chr1:216363722..216363729 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14823C>T (p.Asp4941=) single nucleotide variant not provided [RCV002209949] Chr1:215640703 [GRCh38]
Chr1:215814045 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12030A>G (p.Thr4010=) single nucleotide variant not provided [RCV002168940] Chr1:215728066 [GRCh38]
Chr1:215901408 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6156A>C (p.Pro2052=) single nucleotide variant not provided [RCV002126916] Chr1:216048541 [GRCh38]
Chr1:216221883 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1350C>A (p.Gly450=) single nucleotide variant not provided [RCV002166553] Chr1:216323674 [GRCh38]
Chr1:216497016 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4082-4A>C single nucleotide variant not provided [RCV002169882] Chr1:216196726 [GRCh38]
Chr1:216370068 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14134-17_14134-15del microsatellite not provided [RCV002105757] Chr1:215650816..215650818 [GRCh38]
Chr1:215824158..215824160 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13785A>T (p.Ile4595=) single nucleotide variant not provided [RCV002169423] Chr1:215674126 [GRCh38]
Chr1:215847468 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7452-13_7452-10del microsatellite not provided [RCV002085130] Chr1:215900227..215900230 [GRCh38]
Chr1:216073569..216073572 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14133+10G>A single nucleotide variant not provided [RCV002104899] Chr1:215670962 [GRCh38]
Chr1:215844304 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10944C>T (p.Leu3648=) single nucleotide variant not provided [RCV002209909] Chr1:215766784 [GRCh38]
Chr1:215940126 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6831T>C (p.Tyr2277=) single nucleotide variant not provided [RCV002086076] Chr1:215970751 [GRCh38]
Chr1:216144093 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13419G>A (p.Gln4473=) single nucleotide variant not provided [RCV002092357] Chr1:215674492 [GRCh38]
Chr1:215847834 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7947C>T (p.His2649=) single nucleotide variant not provided [RCV002210776] Chr1:215888702 [GRCh38]
Chr1:216062044 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7770A>G (p.Leu2590=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454024]|Usher syndrome type 2A [RCV003454023]|not provided [RCV002185839] Chr1:215888879 [GRCh38]
Chr1:216062221 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5965C>T (p.Leu1989=) single nucleotide variant not provided [RCV002106125] Chr1:216070185 [GRCh38]
Chr1:216243527 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8607C>T (p.Pro2869=) single nucleotide variant not provided [RCV002112013] Chr1:215877832 [GRCh38]
Chr1:216051174 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6663C>T (p.Cys2221=) single nucleotide variant not provided [RCV002169894] Chr1:215993162 [GRCh38]
Chr1:216166504 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4842G>A (p.Arg1614=) single nucleotide variant not provided [RCV002146700] Chr1:216089056 [GRCh38]
Chr1:216262398 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2535G>A (p.Leu845=) single nucleotide variant not provided [RCV002216373] Chr1:216246859 [GRCh38]
Chr1:216420201 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2724A>G (p.Leu908=) single nucleotide variant not provided [RCV002124419] Chr1:216246670 [GRCh38]
Chr1:216420012 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2613A>G (p.Lys871=) single nucleotide variant not provided [RCV002072482] Chr1:216246781 [GRCh38]
Chr1:216420123 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3454T>C (p.Leu1152=) single nucleotide variant not provided [RCV002128849] Chr1:216199984 [GRCh38]
Chr1:216373326 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8558+14A>T single nucleotide variant not provided [RCV002194991] Chr1:215878750 [GRCh38]
Chr1:216052092 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14829T>C (p.Asn4943=) single nucleotide variant not provided [RCV002195023] Chr1:215640697 [GRCh38]
Chr1:215814039 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1776A>G (p.Pro592=) single nucleotide variant not provided [RCV002133837] Chr1:216292239 [GRCh38]
Chr1:216465581 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11048-6dup duplication not provided [RCV002215311] Chr1:215759848..215759849 [GRCh38]
Chr1:215933190..215933191 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4620C>T (p.Asp1540=) single nucleotide variant not provided [RCV002096720] Chr1:216175259 [GRCh38]
Chr1:216348601 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12322C>T (p.Leu4108=) single nucleotide variant not provided [RCV002153501] Chr1:215675589 [GRCh38]
Chr1:215848931 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9984T>C (p.Tyr3328=) single nucleotide variant not provided [RCV002080914] Chr1:215790257 [GRCh38]
Chr1:215963599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5172C>T (p.Phe1724=) single nucleotide variant not provided [RCV002216160] Chr1:216083582 [GRCh38]
Chr1:216256924 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5976T>C (p.Tyr1992=) single nucleotide variant not provided [RCV002133798] Chr1:216070174 [GRCh38]
Chr1:216243516 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.312C>A (p.Gly104=) single nucleotide variant not provided [RCV002206115] Chr1:216422025 [GRCh38]
Chr1:216595367 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9777T>G (p.Val3259=) single nucleotide variant not provided [RCV002110907] Chr1:215799088 [GRCh38]
Chr1:215972430 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7851A>G (p.Val2617=) single nucleotide variant not provided [RCV002113211] Chr1:215888798 [GRCh38]
Chr1:216062140 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12252A>C (p.Leu4084=) single nucleotide variant not provided [RCV002194879] Chr1:215680191 [GRCh38]
Chr1:215853533 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9861T>C (p.His3287=) single nucleotide variant not provided [RCV002214852] Chr1:215799004 [GRCh38]
Chr1:215972346 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-8C>T single nucleotide variant not provided [RCV002153688] Chr1:216190375 [GRCh38]
Chr1:216363717 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14682C>A (p.Ala4894=) single nucleotide variant not provided [RCV002086537] Chr1:215647631 [GRCh38]
Chr1:215820973 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13557G>A (p.Leu4519=) single nucleotide variant not provided [RCV002087827] Chr1:215674354 [GRCh38]
Chr1:215847696 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2619G>T (p.Gly873=) single nucleotide variant not provided [RCV002091067] Chr1:216246775 [GRCh38]
Chr1:216420117 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.384T>C (p.Ile128=) single nucleotide variant not provided [RCV002074650] Chr1:216421953 [GRCh38]
Chr1:216595295 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14757T>C (p.Ala4919=) single nucleotide variant not provided [RCV002196687] Chr1:215647556 [GRCh38]
Chr1:215820898 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4251+17C>A single nucleotide variant not provided [RCV002097317] Chr1:216196536 [GRCh38]
Chr1:216369878 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12741G>T (p.Gly4247=) single nucleotide variant not provided [RCV002078633] Chr1:215675170 [GRCh38]
Chr1:215848512 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1551-10A>T single nucleotide variant not provided [RCV002153041] Chr1:216321986 [GRCh38]
Chr1:216495328 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3678G>C (p.Gly1226=) single nucleotide variant not provided [RCV002186079] Chr1:216199760 [GRCh38]
Chr1:216373102 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6093C>G (p.Thr2031=) single nucleotide variant not provided [RCV002188235] Chr1:216048604 [GRCh38]
Chr1:216221946 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644+19A>C single nucleotide variant not provided [RCV002087957] Chr1:216321864 [GRCh38]
Chr1:216495206 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10182+14A>G single nucleotide variant not provided [RCV002193272] Chr1:215790045 [GRCh38]
Chr1:215963387 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12474G>A (p.Gln4158=) single nucleotide variant not provided [RCV002174347] Chr1:215675437 [GRCh38]
Chr1:215848779 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6363T>C (p.Ser2121=) single nucleotide variant not provided [RCV002153716] Chr1:216000525 [GRCh38]
Chr1:216173867 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8682-20T>C single nucleotide variant not provided [RCV002094526] Chr1:215867190 [GRCh38]
Chr1:216040532 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.438A>G (p.Ala146=) single nucleotide variant not provided [RCV002147952] Chr1:216421899 [GRCh38]
Chr1:216595241 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.429G>A (p.Lys143=) single nucleotide variant not provided [RCV002113674] Chr1:216421908 [GRCh38]
Chr1:216595250 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4638C>T (p.Ala1546=) single nucleotide variant not provided [RCV002078844] Chr1:216097203 [GRCh38]
Chr1:216270545 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2853C>T (p.Cys951=) single nucleotide variant not provided [RCV002195419] Chr1:216232093 [GRCh38]
Chr1:216405435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14344-16TTCC[4] microsatellite not provided [RCV002096921] Chr1:215648770..215648771 [GRCh38]
Chr1:215822112..215822113 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13743C>T (p.His4581=) single nucleotide variant not provided [RCV002106848] Chr1:215674168 [GRCh38]
Chr1:215847510 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13811+9C>A single nucleotide variant not provided [RCV002088127] Chr1:215674091 [GRCh38]
Chr1:215847433 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9000C>T (p.Phe3000=) single nucleotide variant not provided [RCV002215000] Chr1:215845879 [GRCh38]
Chr1:216019221 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15351C>T (p.Ser5117=) single nucleotide variant not provided [RCV002153394] Chr1:215628982 [GRCh38]
Chr1:215802324 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13530T>G (p.Thr4510=) single nucleotide variant not provided [RCV002097583] Chr1:215674381 [GRCh38]
Chr1:215847723 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4062A>G (p.Ser1354=) single nucleotide variant not provided [RCV002149276] Chr1:216198334 [GRCh38]
Chr1:216371676 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6930G>T (p.Thr2310=) single nucleotide variant not provided [RCV002151194] Chr1:215970652 [GRCh38]
Chr1:216143994 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1716T>C (p.Cys572=) single nucleotide variant not provided [RCV002094862] Chr1:216292299 [GRCh38]
Chr1:216465641 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8394G>C (p.Gly2798=) single nucleotide variant not provided [RCV002087097] Chr1:215878928 [GRCh38]
Chr1:216052270 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.652-233_652-15delinsCATAAAACCT indel not provided [RCV002077631] Chr1:216365100..216365318 [GRCh38]
Chr1:216538442..216538660 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12774A>G (p.Thr4258=) single nucleotide variant not provided [RCV002151485] Chr1:215675137 [GRCh38]
Chr1:215848479 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9096C>T (p.Asn3032=) single nucleotide variant not provided [RCV002134605] Chr1:215844456 [GRCh38]
Chr1:216017798 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9891A>G (p.Arg3297=) single nucleotide variant not provided [RCV002216240] Chr1:215798974 [GRCh38]
Chr1:215972316 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.150C>T (p.Ser50=) single nucleotide variant not provided [RCV002213426] Chr1:216422187 [GRCh38]
Chr1:216595529 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8439T>C (p.Tyr2813=) single nucleotide variant not provided [RCV002195017] Chr1:215878883 [GRCh38]
Chr1:216052225 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14229C>T (p.Phe4743=) single nucleotide variant not provided [RCV002077055] Chr1:215650706 [GRCh38]
Chr1:215824048 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7902T>G (p.Ser2634=) single nucleotide variant not provided [RCV002089949] Chr1:215888747 [GRCh38]
Chr1:216062089 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3157+19A>C single nucleotide variant not provided [RCV002113552] Chr1:216217368 [GRCh38]
Chr1:216390710 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12039C>T (p.Ser4013=) single nucleotide variant not provided [RCV002113609] Chr1:215728057 [GRCh38]
Chr1:215901399 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12067-16G>A single nucleotide variant not provided [RCV002080422] Chr1:215680392 [GRCh38]
Chr1:215853734 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8340T>A (p.Val2780=) single nucleotide variant not provided [RCV002210399] Chr1:215878982 [GRCh38]
Chr1:216052324 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8694T>C (p.Tyr2898=) single nucleotide variant not provided [RCV002171517] Chr1:215867158 [GRCh38]
Chr1:216040500 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8952T>C (p.Ile2984=) single nucleotide variant not provided [RCV002197539] Chr1:215845927 [GRCh38]
Chr1:216019269 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14583-7A>G single nucleotide variant not provided [RCV002149614] Chr1:215647737 [GRCh38]
Chr1:215821079 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10183-20A>C single nucleotide variant not provided [RCV002095184] Chr1:215786894 [GRCh38]
Chr1:215960236 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12465A>G (p.Pro4155=) single nucleotide variant not provided [RCV002146655] Chr1:215675446 [GRCh38]
Chr1:215848788 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10032T>A (p.Ser3344=) single nucleotide variant not provided [RCV002133149] Chr1:215790209 [GRCh38]
Chr1:215963551 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.156G>A (p.Val52=) single nucleotide variant not provided [RCV002096502] Chr1:216422181 [GRCh38]
Chr1:216595523 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1134A>G (p.Gly378=) single nucleotide variant not provided [RCV002172941] Chr1:216325314 [GRCh38]
Chr1:216498656 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10794C>A (p.Ile3598=) single nucleotide variant not provided [RCV002212531] Chr1:215779988 [GRCh38]
Chr1:215953330 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11548+16A>G single nucleotide variant not provided [RCV002133192] Chr1:215743161 [GRCh38]
Chr1:215916503 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10164A>C (p.Ser3388=) single nucleotide variant not provided [RCV002194235] Chr1:215790077 [GRCh38]
Chr1:215963419 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+10A>G single nucleotide variant not provided [RCV002214577] Chr1:215758585 [GRCh38]
Chr1:215931927 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4833T>C (p.Ile1611=) single nucleotide variant not provided [RCV002097669] Chr1:216089065 [GRCh38]
Chr1:216262407 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12504C>T (p.Ser4168=) single nucleotide variant not provided [RCV002093398] Chr1:215675407 [GRCh38]
Chr1:215848749 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8559-9T>C single nucleotide variant not provided [RCV002151800] Chr1:215877889 [GRCh38]
Chr1:216051231 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12288G>A (p.Val4096=) single nucleotide variant not provided [RCV002195539] Chr1:215680155 [GRCh38]
Chr1:215853497 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8682-8C>T single nucleotide variant not provided [RCV002090419] Chr1:215867178 [GRCh38]
Chr1:216040520 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-24CT[11] microsatellite not provided [RCV002132450] Chr1:215743341..215743342 [GRCh38]
Chr1:215916683..215916684 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1144-18T>C single nucleotide variant not provided [RCV002194243] Chr1:216324370 [GRCh38]
Chr1:216497712 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12681C>T (p.Asp4227=) single nucleotide variant not provided [RCV002196501] Chr1:215675230 [GRCh38]
Chr1:215848572 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5858-8C>T single nucleotide variant not provided [RCV002174082] Chr1:216070300 [GRCh38]
Chr1:216243642 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13080C>T (p.Ser4360=) single nucleotide variant not provided [RCV002096579] Chr1:215674831 [GRCh38]
Chr1:215848173 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7725C>T (p.Tyr2575=) single nucleotide variant not provided [RCV002153825] Chr1:215888924 [GRCh38]
Chr1:216062266 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6708T>C (p.Thr2236=) single nucleotide variant not provided [RCV002149971] Chr1:215993117 [GRCh38]
Chr1:216166459 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10450C>A (p.Arg3484=) single nucleotide variant not provided [RCV002212824] Chr1:215782873 [GRCh38]
Chr1:215956215 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14592C>T (p.Leu4864=) single nucleotide variant not provided [RCV002094744] Chr1:215647721 [GRCh38]
Chr1:215821063 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2349C>T (p.Asn783=) single nucleotide variant not provided [RCV002151843] Chr1:216247045 [GRCh38]
Chr1:216420387 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10939+19dup duplication not provided [RCV002132144] Chr1:215779823..215779824 [GRCh38]
Chr1:215953165..215953166 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.7624C>T (p.Leu2542=) single nucleotide variant not provided [RCV002214639] Chr1:215889025 [GRCh38]
Chr1:216062367 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1144-7T>C single nucleotide variant not provided [RCV002081097] Chr1:216324359 [GRCh38]
Chr1:216497701 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12066+7C>A single nucleotide variant not provided [RCV002171390] Chr1:215728023 [GRCh38]
Chr1:215901365 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7206G>C (p.Leu2402=) single nucleotide variant not provided [RCV002085877] Chr1:215934710 [GRCh38]
Chr1:216108052 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5700C>T (p.Cys1900=) single nucleotide variant not provided [RCV002166691] Chr1:216073173 [GRCh38]
Chr1:216246515 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5136A>G (p.Ser1712=) single nucleotide variant not provided [RCV002211490] Chr1:216084729 [GRCh38]
Chr1:216258071 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12294+9T>C single nucleotide variant not provided [RCV002193095] Chr1:215680140 [GRCh38]
Chr1:215853482 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4794T>C (p.His1598=) single nucleotide variant not provided [RCV002151131] Chr1:216089104 [GRCh38]
Chr1:216262446 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1550+2TAT[2] microsatellite not provided [RCV002078292] Chr1:216323464..216323466 [GRCh38]
Chr1:216496806..216496808 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12252A>G (p.Leu4084=) single nucleotide variant not provided [RCV002172115] Chr1:215680191 [GRCh38]
Chr1:215853533 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10677A>G (p.Pro3559=) single nucleotide variant not provided [RCV002093838] Chr1:215782105 [GRCh38]
Chr1:215955447 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.784+20A>G single nucleotide variant not provided [RCV002194931] Chr1:216364933 [GRCh38]
Chr1:216538275 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8307C>A (p.Thr2769=) single nucleotide variant not provided [RCV002095247] Chr1:215879015 [GRCh38]
Chr1:216052357 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10182+9_10182+27del deletion not provided [RCV002078735] Chr1:215790032..215790050 [GRCh38]
Chr1:215963374..215963392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+12_11389+14del deletion not provided [RCV002151578] Chr1:215758581..215758583 [GRCh38]
Chr1:215931923..215931925 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4140C>T (p.Ile1380=) single nucleotide variant not provided [RCV002079368] Chr1:216196664 [GRCh38]
Chr1:216370006 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3811+17G>A single nucleotide variant not provided [RCV002116911] Chr1:216199610 [GRCh38]
Chr1:216372952 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14994G>T (p.Thr4998=) single nucleotide variant not provided [RCV002090705] Chr1:215639213 [GRCh38]
Chr1:215812555 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8355T>G (p.Pro2785=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454029]|Usher syndrome type 2A [RCV003454028]|not provided [RCV002195973] Chr1:215878967 [GRCh38]
Chr1:216052309 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3138T>C (p.Asn1046=) single nucleotide variant not provided [RCV002197215] Chr1:216217406 [GRCh38]
Chr1:216390748 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10047A>G (p.Lys3349=) single nucleotide variant not provided [RCV002205044] Chr1:215790194 [GRCh38]
Chr1:215963536 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15298-19dup duplication not provided [RCV002133094] Chr1:215629053..215629054 [GRCh38]
Chr1:215802395..215802396 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8559-9T>G single nucleotide variant not provided [RCV002095401] Chr1:215877889 [GRCh38]
Chr1:216051231 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8466G>A (p.Gln2822=) single nucleotide variant not provided [RCV002127605] Chr1:215878856 [GRCh38]
Chr1:216052198 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11711+11C>G single nucleotide variant not provided [RCV002110869] Chr1:215741364 [GRCh38]
Chr1:215914706 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14622A>T (p.Ser4874=) single nucleotide variant not provided [RCV002112528] Chr1:215647691 [GRCh38]
Chr1:215821033 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14310G>C (p.Leu4770=) single nucleotide variant not provided [RCV002076101] Chr1:215650625 [GRCh38]
Chr1:215823967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2809+10A>C single nucleotide variant not provided [RCV002192793] Chr1:216246575 [GRCh38]
Chr1:216419917 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4797C>A (p.Gly1599=) single nucleotide variant not provided [RCV002134206] Chr1:216089101 [GRCh38]
Chr1:216262443 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6066G>A (p.Leu2022=) single nucleotide variant not provided [RCV002079957] Chr1:216048631 [GRCh38]
Chr1:216221973 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11790C>T (p.Asp3930=) single nucleotide variant not provided [RCV002206443] Chr1:215728306 [GRCh38]
Chr1:215901648 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.312C>T (p.Gly104=) single nucleotide variant not provided [RCV002115235] Chr1:216422025 [GRCh38]
Chr1:216595367 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9259-11A>C single nucleotide variant not provided [RCV002133748] Chr1:215838114 [GRCh38]
Chr1:216011456 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5760T>C (p.Gly1920=) single nucleotide variant not provided [RCV002095643] Chr1:216073113 [GRCh38]
Chr1:216246455 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5787T>C (p.Tyr1929=) single nucleotide variant not provided [RCV002106721] Chr1:216072959 [GRCh38]
Chr1:216246301 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8754G>A (p.Val2918=) single nucleotide variant not provided [RCV002074822] Chr1:215867098 [GRCh38]
Chr1:216040440 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3390G>A (p.Val1130=) single nucleotide variant not provided [RCV002147808] Chr1:216200048 [GRCh38]
Chr1:216373390 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1143+18G>C single nucleotide variant not provided [RCV002147839] Chr1:216325287 [GRCh38]
Chr1:216498629 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9654T>C (p.Ser3218=) single nucleotide variant not provided [RCV002093221] Chr1:215813821 [GRCh38]
Chr1:215987163 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12183C>T (p.Thr4061=) single nucleotide variant not provided [RCV002114585] Chr1:215680260 [GRCh38]
Chr1:215853602 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9747A>T (p.Val3249=) single nucleotide variant not provided [RCV002214729] Chr1:215799118 [GRCh38]
Chr1:215972460 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11070C>T (p.His3690=) single nucleotide variant not provided [RCV002133788] Chr1:215759821 [GRCh38]
Chr1:215933163 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15159C>T (p.Ile5053=) single nucleotide variant not provided [RCV002080083] Chr1:215634597 [GRCh38]
Chr1:215807939 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10890A>G (p.Lys3630=) single nucleotide variant not provided [RCV002105412] Chr1:215779892 [GRCh38]
Chr1:215953234 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+10C>T single nucleotide variant not provided [RCV002190132] Chr1:215877748 [GRCh38]
Chr1:216051090 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4396+19A>T single nucleotide variant not provided [RCV002076336] Chr1:216190204 [GRCh38]
Chr1:216363546 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6138A>G (p.Ala2046=) single nucleotide variant not provided [RCV002077621] Chr1:216048559 [GRCh38]
Chr1:216221901 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5857+10T>C single nucleotide variant not provided [RCV002213281] Chr1:216072879 [GRCh38]
Chr1:216246221 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4644T>C (p.Phe1548=) single nucleotide variant not provided [RCV002151129] Chr1:216097197 [GRCh38]
Chr1:216270539 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5676A>G (p.Leu1892=) single nucleotide variant not provided [RCV002079586] Chr1:216073197 [GRCh38]
Chr1:216246539 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10902C>T (p.His3634=) single nucleotide variant not provided [RCV002115632] Chr1:215779880 [GRCh38]
Chr1:215953222 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2809+12A>G single nucleotide variant not provided [RCV002149358] Chr1:216246573 [GRCh38]
Chr1:216419915 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14792-9T>C single nucleotide variant not provided [RCV002211487] Chr1:215640743 [GRCh38]
Chr1:215814085 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4886-11C>T single nucleotide variant not provided [RCV002077664] Chr1:216086831 [GRCh38]
Chr1:216260173 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4848G>A (p.Gln1616=) single nucleotide variant not provided [RCV002194883] Chr1:216089050 [GRCh38]
Chr1:216262392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4482T>C (p.Asn1494=) single nucleotide variant not provided [RCV002194897] Chr1:216175397 [GRCh38]
Chr1:216348739 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8280C>T (p.His2760=) single nucleotide variant not provided [RCV002087177] Chr1:215879042 [GRCh38]
Chr1:216052384 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9570+7C>G single nucleotide variant not provided [RCV002148072] Chr1:215816990 [GRCh38]
Chr1:215990332 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9372-7_9372-6del deletion not provided [RCV002130919] Chr1:215817201..215817202 [GRCh38]
Chr1:215990543..215990544 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13662T>G (p.Pro4554=) single nucleotide variant not provided [RCV002212722] Chr1:215674249 [GRCh38]
Chr1:215847591 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7300+17G>A single nucleotide variant not provided [RCV002114712] Chr1:215934599 [GRCh38]
Chr1:216107941 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10638A>C (p.Gly3546=) single nucleotide variant not provided [RCV002076545] Chr1:215782144 [GRCh38]
Chr1:215955486 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5664G>A (p.Leu1888=) single nucleotide variant not provided [RCV002134340] Chr1:216073209 [GRCh38]
Chr1:216246551 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7410A>G (p.Gln2470=) single nucleotide variant not provided [RCV002187504] Chr1:215900796 [GRCh38]
Chr1:216074138 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1551-7T>C single nucleotide variant not provided [RCV002094203] Chr1:216321983 [GRCh38]
Chr1:216495325 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11061A>G (p.Thr3687=) single nucleotide variant not provided [RCV002215568] Chr1:215759830 [GRCh38]
Chr1:215933172 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1353T>C (p.Asn451=) single nucleotide variant not provided [RCV002215571] Chr1:216323671 [GRCh38]
Chr1:216497013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3972A>G (p.Thr1324=) single nucleotide variant not provided [RCV002096790] Chr1:216198424 [GRCh38]
Chr1:216371766 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11034G>A (p.Gln3678=) single nucleotide variant not provided [RCV002196755] Chr1:215766694 [GRCh38]
Chr1:215940036 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.129G>C (p.Val43=) single nucleotide variant not provided [RCV002196757] Chr1:216422208 [GRCh38]
Chr1:216595550 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+17T>C single nucleotide variant not provided [RCV002186736] Chr1:216175235 [GRCh38]
Chr1:216348577 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4886-11_4886-9del microsatellite not provided [RCV002145104] Chr1:216086829..216086831 [GRCh38]
Chr1:216260171..216260173 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-8C>T single nucleotide variant not provided [RCV002171386] Chr1:215743343 [GRCh38]
Chr1:215916685 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7311C>T (p.Gly2437=) single nucleotide variant not provided [RCV002132730] Chr1:215900895 [GRCh38]
Chr1:216074237 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5871G>T (p.Val1957=) single nucleotide variant not provided [RCV002106286] Chr1:216070279 [GRCh38]
Chr1:216243621 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6055T>C (p.Leu2019=) single nucleotide variant not provided [RCV002212292] Chr1:216048642 [GRCh38]
Chr1:216221984 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2993+10T>C single nucleotide variant not provided [RCV002094975] Chr1:216231943 [GRCh38]
Chr1:216405285 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6957+9C>T single nucleotide variant not provided [RCV002195053] Chr1:215970616 [GRCh38]
Chr1:216143958 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6633T>C (p.Gly2211=) single nucleotide variant not provided [RCV002173813] Chr1:215998911 [GRCh38]
Chr1:216172253 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3158-14T>G single nucleotide variant not provided [RCV002133964] Chr1:216207445 [GRCh38]
Chr1:216380787 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7350T>C (p.Ser2450=) single nucleotide variant not provided [RCV002097034] Chr1:215900856 [GRCh38]
Chr1:216074198 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7086A>G (p.Ser2362=) single nucleotide variant not provided [RCV002134686] Chr1:215965351 [GRCh38]
Chr1:216138693 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.927G>A (p.Pro309=) single nucleotide variant not provided [RCV002080468] Chr1:216325521 [GRCh38]
Chr1:216498863 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10365T>C (p.Ser3455=) single nucleotide variant not provided [RCV002194837] Chr1:215786692 [GRCh38]
Chr1:215960034 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2745A>C (p.Pro915=) single nucleotide variant not provided [RCV002096962] Chr1:216246649 [GRCh38]
Chr1:216419991 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.486-13G>T single nucleotide variant not provided [RCV002171985] Chr1:216418692 [GRCh38]
Chr1:216592034 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1800G>T (p.Gly600=) single nucleotide variant not provided [RCV002125736] Chr1:216292215 [GRCh38]
Chr1:216465557 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10512C>T (p.Pro3504=) single nucleotide variant not provided [RCV002207324] Chr1:215782811 [GRCh38]
Chr1:215956153 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6636T>C (p.Asn2212=) single nucleotide variant not provided [RCV002112054] Chr1:215998908 [GRCh38]
Chr1:216172250 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4248A>C (p.Ser1416=) single nucleotide variant not provided [RCV002092188] Chr1:216196556 [GRCh38]
Chr1:216369898 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.441A>G (p.Ser147=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454002]|Usher syndrome type 2A [RCV003454001]|not provided [RCV002212948] Chr1:216421896 [GRCh38]
Chr1:216595238 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5168-14T>A single nucleotide variant not provided [RCV002213562] Chr1:216083600 [GRCh38]
Chr1:216256942 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14133+9T>A single nucleotide variant not provided [RCV002173879] Chr1:215670963 [GRCh38]
Chr1:215844305 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8010T>C (p.Thr2670=) single nucleotide variant not provided [RCV002093608] Chr1:215888639 [GRCh38]
Chr1:216061981 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11064T>A (p.Pro3688=) single nucleotide variant not provided [RCV002127107] Chr1:215759827 [GRCh38]
Chr1:215933169 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9555T>C (p.Tyr3185=) single nucleotide variant not provided [RCV002127114] Chr1:215817012 [GRCh38]
Chr1:215990354 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8223+10del deletion not provided [RCV002189323] Chr1:215888416 [GRCh38]
Chr1:216061758 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9021C>T (p.Asn3007=) single nucleotide variant not provided [RCV002112218] Chr1:215845858 [GRCh38]
Chr1:216019200 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1614C>T (p.Cys538=) single nucleotide variant not provided [RCV002212952] Chr1:216321913 [GRCh38]
Chr1:216495255 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7301-14G>T single nucleotide variant not provided [RCV002116963] Chr1:215900919 [GRCh38]
Chr1:216074261 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8862A>G (p.Gln2954=) single nucleotide variant not provided [RCV002193787] Chr1:215846017 [GRCh38]
Chr1:216019359 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7594+9T>C single nucleotide variant not provided [RCV002172710] Chr1:215900066 [GRCh38]
Chr1:216073408 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11184C>T (p.Gly3728=) single nucleotide variant not provided [RCV002097091] Chr1:215759707 [GRCh38]
Chr1:215933049 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.993A>G (p.Arg331=) single nucleotide variant not provided [RCV002206102] Chr1:216325455 [GRCh38]
Chr1:216498797 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9543A>G (p.Gly3181=) single nucleotide variant not provided [RCV002073902] Chr1:215817024 [GRCh38]
Chr1:215990366 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1161T>C (p.Ile387=) single nucleotide variant not provided [RCV002075870] Chr1:216324335 [GRCh38]
Chr1:216497677 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12675T>C (p.Tyr4225=) single nucleotide variant not provided [RCV002192574] Chr1:215675236 [GRCh38]
Chr1:215848578 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9739+10A>G single nucleotide variant not provided [RCV002075912] Chr1:215813726 [GRCh38]
Chr1:215987068 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14792-5C>T single nucleotide variant not provided [RCV002131806] Chr1:215640739 [GRCh38]
Chr1:215814081 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9987G>C (p.Val3329=) single nucleotide variant not provided [RCV002150344] Chr1:215790254 [GRCh38]
Chr1:215963596 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9571-9A>T single nucleotide variant not provided [RCV002113829] Chr1:215813913 [GRCh38]
Chr1:215987255 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9959-20A>G single nucleotide variant not provided [RCV002212990] Chr1:215790302 [GRCh38]
Chr1:215963644 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5601A>G (p.Lys1867=) single nucleotide variant not provided [RCV002194556] Chr1:216073272 [GRCh38]
Chr1:216246614 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10585+12C>T single nucleotide variant not provided [RCV002172769] Chr1:215782726 [GRCh38]
Chr1:215956068 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4987+13A>C single nucleotide variant not provided [RCV002134081] Chr1:216086706 [GRCh38]
Chr1:216260048 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-5G>T single nucleotide variant not provided [RCV002215806] Chr1:216073305 [GRCh38]
Chr1:216246647 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13302A>G (p.Ser4434=) single nucleotide variant not provided [RCV002215810] Chr1:215674609 [GRCh38]
Chr1:215847951 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15009T>C (p.Ser5003=) single nucleotide variant not provided [RCV002085313] Chr1:215639198 [GRCh38]
Chr1:215812540 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10500A>G (p.Gln3500=) single nucleotide variant not provided [RCV002185773] Chr1:215782823 [GRCh38]
Chr1:215956165 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5349C>T (p.Ala1783=) single nucleotide variant not provided [RCV002092474] Chr1:216078312 [GRCh38]
Chr1:216251654 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2103A>G (p.Thr701=) single nucleotide variant not provided [RCV002130486] Chr1:216250967 [GRCh38]
Chr1:216424309 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5034T>C (p.Phe1678=) single nucleotide variant not provided [RCV002195259] Chr1:216084831 [GRCh38]
Chr1:216258173 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11047+14del deletion not provided [RCV002199418] Chr1:215766667 [GRCh38]
Chr1:215940009 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9099T>C (p.Ser3033=) single nucleotide variant not provided [RCV002138918] Chr1:215844453 [GRCh38]
Chr1:216017795 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1596G>A (p.Gln532=) single nucleotide variant not provided [RCV002138637] Chr1:216321931 [GRCh38]
Chr1:216495273 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7356G>A (p.Gln2452=) single nucleotide variant not provided [RCV002155722] Chr1:215900850 [GRCh38]
Chr1:216074192 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7121-8T>C single nucleotide variant not provided [RCV002138956] Chr1:215934803 [GRCh38]
Chr1:216108145 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7300+8T>A single nucleotide variant not provided [RCV002099818] Chr1:215934608 [GRCh38]
Chr1:216107950 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.936C>T (p.His312=) single nucleotide variant not provided [RCV002201713] Chr1:216325512 [GRCh38]
Chr1:216498854 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-9dup duplication not provided [RCV002178972] Chr1:216247234..216247235 [GRCh38]
Chr1:216420576..216420577 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.13812-8del deletion not provided [RCV002199908] Chr1:215671301 [GRCh38]
Chr1:215844643 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11934T>G (p.Ala3978=) single nucleotide variant not provided [RCV002177192] Chr1:215728162 [GRCh38]
Chr1:215901504 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6163+9A>G single nucleotide variant not provided [RCV002220432] Chr1:216048525 [GRCh38]
Chr1:216221867 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3354T>C (p.Tyr1118=) single nucleotide variant not provided [RCV002158131] Chr1:216200084 [GRCh38]
Chr1:216373426 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7542T>C (p.Asn2514=) single nucleotide variant not provided [RCV002139476] Chr1:215900127 [GRCh38]
Chr1:216073469 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9371+15G>A single nucleotide variant not provided [RCV002123420] Chr1:215837976 [GRCh38]
Chr1:216011318 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13626C>T (p.Ala4542=) single nucleotide variant not provided [RCV002156314] Chr1:215674285 [GRCh38]
Chr1:215847627 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10167T>C (p.Thr3389=) single nucleotide variant not provided [RCV002217103] Chr1:215790074 [GRCh38]
Chr1:215963416 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10122T>C (p.Val3374=) single nucleotide variant not provided [RCV002181472] Chr1:215790119 [GRCh38]
Chr1:215963461 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10677A>T (p.Pro3559=) single nucleotide variant not provided [RCV002217038] Chr1:215782105 [GRCh38]
Chr1:215955447 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3811+19G>T single nucleotide variant not provided [RCV002137712] Chr1:216199608 [GRCh38]
Chr1:216372950 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11548+19C>T single nucleotide variant not provided [RCV002200131] Chr1:215743158 [GRCh38]
Chr1:215916500 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1398A>G (p.Gly466=) single nucleotide variant not provided [RCV002136067] Chr1:216323626 [GRCh38]
Chr1:216496968 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2896C>T (p.Leu966=) single nucleotide variant not provided [RCV002081924] Chr1:216232050 [GRCh38]
Chr1:216405392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7572T>A (p.Ile2524=) single nucleotide variant not provided [RCV002202039] Chr1:215900097 [GRCh38]
Chr1:216073439 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11439T>C (p.Asp3813=) single nucleotide variant not provided [RCV002100701] Chr1:215743286 [GRCh38]
Chr1:215916628 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2665T>C (p.Leu889=) single nucleotide variant not provided [RCV002138126] Chr1:216246729 [GRCh38]
Chr1:216420071 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1206G>A (p.Lys402=) single nucleotide variant not provided [RCV002158565] Chr1:216324290 [GRCh38]
Chr1:216497632 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10183-16C>G single nucleotide variant not provided [RCV002140063] Chr1:215786890 [GRCh38]
Chr1:215960232 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7595-16T>C single nucleotide variant not provided [RCV002084022] Chr1:215889070 [GRCh38]
Chr1:216062412 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6050-14C>T single nucleotide variant not provided [RCV002098971] Chr1:216048661 [GRCh38]
Chr1:216222003 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9954T>A (p.Leu3318=) single nucleotide variant not provided [RCV002156881] Chr1:215798911 [GRCh38]
Chr1:215972253 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11711+8T>C single nucleotide variant not provided [RCV002082324] Chr1:215741367 [GRCh38]
Chr1:215914709 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.309A>G (p.Ala103=) single nucleotide variant not provided [RCV002200780] Chr1:216422028 [GRCh38]
Chr1:216595370 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7113A>C (p.Val2371=) single nucleotide variant not provided [RCV002082450] Chr1:215965324 [GRCh38]
Chr1:216138666 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5961C>T (p.Tyr1987=) single nucleotide variant not provided [RCV002159000] Chr1:216070189 [GRCh38]
Chr1:216243531 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15270T>C (p.Asn5090=) single nucleotide variant not provided [RCV002142110] Chr1:215634486 [GRCh38]
Chr1:215807828 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10593T>C (p.Ile3531=) single nucleotide variant not provided [RCV002217779] Chr1:215782189 [GRCh38]
Chr1:215955531 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14133+7A>G single nucleotide variant not provided [RCV002199103] Chr1:215670965 [GRCh38]
Chr1:215844307 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5898A>G (p.Leu1966=) single nucleotide variant not provided [RCV002160927] Chr1:216070252 [GRCh38]
Chr1:216243594 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1950T>C (p.Asn650=) single nucleotide variant not provided [RCV002182242] Chr1:216289301 [GRCh38]
Chr1:216462643 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5610G>C (p.Arg1870=) single nucleotide variant not provided [RCV002120750] Chr1:216073263 [GRCh38]
Chr1:216246605 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7392T>G (p.Pro2464=) single nucleotide variant not provided [RCV002138582] Chr1:215900814 [GRCh38]
Chr1:216074156 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10014A>T (p.Ser3338=) single nucleotide variant not provided [RCV002140277] Chr1:215790227 [GRCh38]
Chr1:215963569 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11487C>G (p.Thr3829=) single nucleotide variant not provided [RCV002176768] Chr1:215743238 [GRCh38]
Chr1:215916580 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14493A>G (p.Gly4831=) single nucleotide variant not provided [RCV002159460] Chr1:215648617 [GRCh38]
Chr1:215821959 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4380A>G (p.Gly1460=) single nucleotide variant not provided [RCV002142683] Chr1:216190239 [GRCh38]
Chr1:216363581 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12141C>T (p.Asn4047=) single nucleotide variant not provided [RCV002218174] Chr1:215680302 [GRCh38]
Chr1:215853644 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9183C>G (p.Leu3061=) single nucleotide variant not provided [RCV002176994] Chr1:215844369 [GRCh38]
Chr1:216017711 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9259-4G>T single nucleotide variant not provided [RCV002199420] Chr1:215838107 [GRCh38]
Chr1:216011449 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12204A>G (p.Gly4068=) single nucleotide variant not provided [RCV002119332] Chr1:215680239 [GRCh38]
Chr1:215853581 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4759-12C>A single nucleotide variant not provided [RCV002140930] Chr1:216089151 [GRCh38]
Chr1:216262493 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3317-9T>C single nucleotide variant not provided [RCV002197757] Chr1:216200130 [GRCh38]
Chr1:216373472 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7326G>A (p.Arg2442=) single nucleotide variant not provided [RCV002135402] Chr1:215900880 [GRCh38]
Chr1:216074222 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2949C>T (p.Asp983=) single nucleotide variant not provided [RCV002182767] Chr1:216231997 [GRCh38]
Chr1:216405339 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10392G>A (p.Val3464=) single nucleotide variant not provided [RCV002117583] Chr1:215782931 [GRCh38]
Chr1:215956273 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1551-10A>G single nucleotide variant not provided [RCV002177280] Chr1:216321986 [GRCh38]
Chr1:216495328 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644+15del deletion not provided [RCV002081409] Chr1:216321868 [GRCh38]
Chr1:216495210 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12768G>A (p.Val4256=) single nucleotide variant not provided [RCV002156077] Chr1:215675143 [GRCh38]
Chr1:215848485 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14463A>G (p.Glu4821=) single nucleotide variant not provided [RCV002156099] Chr1:215648647 [GRCh38]
Chr1:215821989 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7017A>G (p.Thr2339=) single nucleotide variant not provided [RCV002102025] Chr1:215965420 [GRCh38]
Chr1:216138762 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6585C>T (p.Asn2195=) single nucleotide variant not provided [RCV002102028] Chr1:215998959 [GRCh38]
Chr1:216172301 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1857G>C (p.Leu619=) single nucleotide variant not provided [RCV002179248] Chr1:216289394 [GRCh38]
Chr1:216462736 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12066+14G>C single nucleotide variant not provided [RCV002141304] Chr1:215728016 [GRCh38]
Chr1:215901358 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7884A>G (p.Pro2628=) single nucleotide variant not provided [RCV002141305] Chr1:215888765 [GRCh38]
Chr1:216062107 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8622T>C (p.Asn2874=) single nucleotide variant not provided [RCV002141309] Chr1:215877817 [GRCh38]
Chr1:216051159 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5469A>G (p.Ala1823=) single nucleotide variant not provided [RCV002161692] Chr1:216078192 [GRCh38]
Chr1:216251534 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11976T>C (p.Asn3992=) single nucleotide variant not provided [RCV002163504] Chr1:215728120 [GRCh38]
Chr1:215901462 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14582+10C>G single nucleotide variant not provided [RCV002081656] Chr1:215648518 [GRCh38]
Chr1:215821860 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7120+9T>C single nucleotide variant not provided [RCV002177674] Chr1:215965308 [GRCh38]
Chr1:216138650 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13629G>A (p.Arg4543=) single nucleotide variant not provided [RCV002081771] Chr1:215674282 [GRCh38]
Chr1:215847624 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2943T>C (p.Arg981=) single nucleotide variant not provided [RCV002137744] Chr1:216232003 [GRCh38]
Chr1:216405345 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14781C>G (p.Thr4927=) single nucleotide variant not provided [RCV002179494] Chr1:215647532 [GRCh38]
Chr1:215820874 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6805+20C>G single nucleotide variant not provided [RCV002202044] Chr1:215993000 [GRCh38]
Chr1:216166342 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14832G>A (p.Leu4944=) single nucleotide variant not provided [RCV002102385] Chr1:215640694 [GRCh38]
Chr1:215814036 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6414A>G (p.Thr2138=) single nucleotide variant not provided [RCV002143296] Chr1:216000474 [GRCh38]
Chr1:216173816 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2586C>T (p.Asn862=) single nucleotide variant not provided [RCV002163592] Chr1:216246808 [GRCh38]
Chr1:216420150 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644+8C>T single nucleotide variant not provided [RCV002163649] Chr1:216321875 [GRCh38]
Chr1:216495217 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14379T>C (p.His4793=) single nucleotide variant not provided [RCV002135994] Chr1:215648731 [GRCh38]
Chr1:215822073 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10586-6T>C single nucleotide variant not provided [RCV002181737] Chr1:215782202 [GRCh38]
Chr1:215955544 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8583C>A (p.Ile2861=) single nucleotide variant not provided [RCV002160465] Chr1:215877856 [GRCh38]
Chr1:216051198 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14307G>A (p.Arg4769=) single nucleotide variant not provided [RCV002163740] Chr1:215650628 [GRCh38]
Chr1:215823970 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11175C>T (p.Phe3725=) single nucleotide variant not provided [RCV002163764] Chr1:215759716 [GRCh38]
Chr1:215933058 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13590A>G (p.Ser4530=) single nucleotide variant not provided [RCV002163776] Chr1:215674321 [GRCh38]
Chr1:215847663 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9189G>A (p.Lys3063=) single nucleotide variant not provided [RCV002175993] Chr1:215844363 [GRCh38]
Chr1:216017705 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9372-11C>T single nucleotide variant not provided [RCV002200376] Chr1:215817206 [GRCh38]
Chr1:215990548 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6164-5dup duplication not provided [RCV002176052] Chr1:216046596..216046597 [GRCh38]
Chr1:216219938..216219939 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2640T>C (p.Asn880=) single nucleotide variant not provided [RCV002176059] Chr1:216246754 [GRCh38]
Chr1:216420096 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10940-10C>G single nucleotide variant not provided [RCV002154771] Chr1:215766798 [GRCh38]
Chr1:215940140 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11700C>T (p.Tyr3900=) single nucleotide variant not provided [RCV002082061] Chr1:215741386 [GRCh38]
Chr1:215914728 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12147A>G (p.Ala4049=) single nucleotide variant not provided [RCV002164015] Chr1:215680296 [GRCh38]
Chr1:215853638 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1434G>A (p.Glu478=) single nucleotide variant not provided [RCV002082239] Chr1:216323590 [GRCh38]
Chr1:216496932 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9959-6T>C single nucleotide variant not provided [RCV002219415] Chr1:215790288 [GRCh38]
Chr1:215963630 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9056-8A>T single nucleotide variant not provided [RCV002143701] Chr1:215844504 [GRCh38]
Chr1:216017846 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11712-8C>G single nucleotide variant not provided [RCV002183781] Chr1:215728392 [GRCh38]
Chr1:215901734 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4397-19G>A single nucleotide variant not provided [RCV002183802] Chr1:216175501 [GRCh38]
Chr1:216348843 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4770G>A (p.Val1590=) single nucleotide variant not provided [RCV002164173] Chr1:216089128 [GRCh38]
Chr1:216262470 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.519T>C (p.Ile173=) single nucleotide variant not provided [RCV002178204] Chr1:216418646 [GRCh38]
Chr1:216591988 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10185A>G (p.Glu3395=) single nucleotide variant not provided [RCV002100877] Chr1:215786872 [GRCh38]
Chr1:215960214 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3768T>C (p.Ser1256=) single nucleotide variant not provided [RCV002084256] Chr1:216199670 [GRCh38]
Chr1:216373012 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3317-17_3317-14del deletion not provided [RCV002138348] Chr1:216200135..216200138 [GRCh38]
Chr1:216373477..216373480 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003454043]|Usher syndrome type 2A [RCV003454042]|not provided [RCV002222795] Chr1:215674505 [GRCh38]
Chr1:215847847 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7374A>G (p.Pro2458=) single nucleotide variant not provided [RCV002160918] Chr1:215900832 [GRCh38]
Chr1:216074174 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13539C>T (p.Asn4513=) single nucleotide variant not provided [RCV002162563] Chr1:215674372 [GRCh38]
Chr1:215847714 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6806-4C>T single nucleotide variant not provided [RCV002164282] Chr1:215970780 [GRCh38]
Chr1:216144122 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1686C>A (p.Arg562=) single nucleotide variant not provided [RCV002176424] Chr1:216292329 [GRCh38]
Chr1:216465671 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10758C>A (p.Thr3586=) single nucleotide variant not provided [RCV002217692] Chr1:215780024 [GRCh38]
Chr1:215953366 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003454045]|Usher syndrome type 2A [RCV002502033]|Usher syndrome type 2A [RCV003454044]|not specified [RCV002223010] Chr1:215674599 [GRCh38]
Chr1:215847941 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.506T>C (p.Val169Ala) single nucleotide variant not specified [RCV002223011] Chr1:216418659 [GRCh38]
Chr1:216592001 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14969-12C>T single nucleotide variant not provided [RCV002082668] Chr1:215639250 [GRCh38]
Chr1:215812592 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13062T>C (p.Ala4354=) single nucleotide variant not provided [RCV002157167] Chr1:215674849 [GRCh38]
Chr1:215848191 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1841-5T>C single nucleotide variant not provided [RCV002217914] Chr1:216289415 [GRCh38]
Chr1:216462757 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14604G>T (p.Val4868=) single nucleotide variant not provided [RCV002199293] Chr1:215647709 [GRCh38]
Chr1:215821051 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2811T>C (p.Gly937=) single nucleotide variant not provided [RCV002160611] Chr1:216232135 [GRCh38]
Chr1:216405477 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4956G>A (p.Pro1652=) single nucleotide variant not provided [RCV002160626] Chr1:216086750 [GRCh38]
Chr1:216260092 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2475G>A (p.Gln825=) single nucleotide variant not provided [RCV002162541] Chr1:216246919 [GRCh38]
Chr1:216420261 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5943A>G (p.Arg1981=) single nucleotide variant not provided [RCV002082946] Chr1:216070207 [GRCh38]
Chr1:216243549 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13329G>A (p.Leu4443=) single nucleotide variant not provided [RCV002124277] Chr1:215674582 [GRCh38]
Chr1:215847924 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6912C>T (p.Phe2304=) single nucleotide variant not provided [RCV002160715] Chr1:215970670 [GRCh38]
Chr1:216144012 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6723C>T (p.Pro2241=) single nucleotide variant not provided [RCV002160777] Chr1:215993102 [GRCh38]
Chr1:216166444 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7944C>T (p.Thr2648=) single nucleotide variant not provided [RCV002160783] Chr1:215888705 [GRCh38]
Chr1:216062047 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12090G>C (p.Leu4030=) single nucleotide variant not provided [RCV002137119] Chr1:215680353 [GRCh38]
Chr1:215853695 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7758A>G (p.Thr2586=) single nucleotide variant not provided [RCV002182197] Chr1:215888891 [GRCh38]
Chr1:216062233 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.162C>T (p.Thr54=) single nucleotide variant not provided [RCV002204761] Chr1:216422175 [GRCh38]
Chr1:216595517 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14088T>C (p.Ser4696=) single nucleotide variant not provided [RCV002142229] Chr1:215671017 [GRCh38]
Chr1:215844359 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14969-15C>A single nucleotide variant not provided [RCV002175269] Chr1:215639253 [GRCh38]
Chr1:215812595 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11235C>T (p.Tyr3745=) single nucleotide variant not provided [RCV002099800] Chr1:215758749 [GRCh38]
Chr1:215932091 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5167+15A>C single nucleotide variant not provided [RCV002122664] Chr1:216084683 [GRCh38]
Chr1:216258025 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.1203G>A (p.Arg401=) single nucleotide variant not provided [RCV002162856] Chr1:216324293 [GRCh38]
Chr1:216497635 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4081+18A>C single nucleotide variant not provided [RCV002220426] Chr1:216198297 [GRCh38]
Chr1:216371639 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9939G>A (p.Val3313=) single nucleotide variant not provided [RCV002098085] Chr1:215798926 [GRCh38]
Chr1:215972268 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+13_11389+14dup duplication not provided [RCV002122875] Chr1:215758580..215758581 [GRCh38]
Chr1:215931922..215931923 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.10506G>A (p.Val3502=) single nucleotide variant not provided [RCV002156124] Chr1:215782817 [GRCh38]
Chr1:215956159 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2631T>C (p.Leu877=) single nucleotide variant not provided [RCV002140659] Chr1:216246763 [GRCh38]
Chr1:216420105 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+19C>G single nucleotide variant not provided [RCV002161188] Chr1:215798888 [GRCh38]
Chr1:215972230 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8676T>C (p.Leu2892=) single nucleotide variant not provided [RCV002182570] Chr1:215877763 [GRCh38]
Chr1:216051105 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2799G>A (p.Gln933=) single nucleotide variant not provided [RCV002163197] Chr1:216246595 [GRCh38]
Chr1:216419937 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3157+15G>T single nucleotide variant not provided [RCV002218768] Chr1:216217372 [GRCh38]
Chr1:216390714 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-16T>C single nucleotide variant not provided [RCV002180719] Chr1:216247242 [GRCh38]
Chr1:216420584 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5220T>A (p.Ile1740=) single nucleotide variant not provided [RCV002198096] Chr1:216083534 [GRCh38]
Chr1:216256876 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10164A>G (p.Ser3388=) single nucleotide variant not provided [RCV002198099] Chr1:215790077 [GRCh38]
Chr1:215963419 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4824T>C (p.His1608=) single nucleotide variant not provided [RCV002156246] Chr1:216089074 [GRCh38]
Chr1:216262416 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6050-7A>T single nucleotide variant not provided [RCV002139362] Chr1:216048654 [GRCh38]
Chr1:216221996 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4290T>A (p.Thr1430=) single nucleotide variant not provided [RCV002175787] Chr1:216190329 [GRCh38]
Chr1:216363671 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8558+20A>T single nucleotide variant not provided [RCV002161430] Chr1:215878744 [GRCh38]
Chr1:216052086 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15053-5T>C single nucleotide variant not provided [RCV002179592] Chr1:215634708 [GRCh38]
Chr1:215808050 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9258+14T>G single nucleotide variant not provided [RCV002181008] Chr1:215844280 [GRCh38]
Chr1:216017622 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2580G>A (p.Leu860=) single nucleotide variant not provided [RCV002181060] Chr1:216246814 [GRCh38]
Chr1:216420156 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.785-9dup duplication not provided [RCV002140999] Chr1:216327662..216327663 [GRCh38]
Chr1:216501004..216501005 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15175C>T (p.Leu5059=) single nucleotide variant not provided [RCV002217117] Chr1:215634581 [GRCh38]
Chr1:215807923 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6357A>G (p.Leu2119=) single nucleotide variant not provided [RCV002154675] Chr1:216000531 [GRCh38]
Chr1:216173873 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2973A>G (p.Gly991=) single nucleotide variant not provided [RCV002120239] Chr1:216231973 [GRCh38]
Chr1:216405315 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11694C>T (p.Ile3898=) single nucleotide variant not provided [RCV002158357] Chr1:215741392 [GRCh38]
Chr1:215914734 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15138A>G (p.Leu5046=) single nucleotide variant not provided [RCV002103968] Chr1:215634618 [GRCh38]
Chr1:215807960 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7746C>T (p.Val2582=) single nucleotide variant not provided [RCV002136114] Chr1:215888903 [GRCh38]
Chr1:216062245 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11622T>C (p.Val3874=) single nucleotide variant not provided [RCV002098622] Chr1:215741464 [GRCh38]
Chr1:215914806 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5031T>C (p.His1677=) single nucleotide variant not provided [RCV002141083] Chr1:216084834 [GRCh38]
Chr1:216258176 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11868A>C (p.Ser3956=) single nucleotide variant not provided [RCV002183012] Chr1:215728228 [GRCh38]
Chr1:215901570 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14968+10T>G single nucleotide variant not provided [RCV002160048] Chr1:215640548 [GRCh38]
Chr1:215813890 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10446T>C (p.Tyr3482=) single nucleotide variant not provided [RCV002161965] Chr1:215782877 [GRCh38]
Chr1:215956219 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10533C>T (p.Asp3511=) single nucleotide variant not provided [RCV002158578] Chr1:215782790 [GRCh38]
Chr1:215956132 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1599A>G (p.Pro533=) single nucleotide variant not provided [RCV002160159] Chr1:216321928 [GRCh38]
Chr1:216495270 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6485+8G>C single nucleotide variant not provided [RCV002203962] Chr1:216000395 [GRCh38]
Chr1:216173737 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5307G>A (p.Leu1769=) single nucleotide variant not provided [RCV002162012] Chr1:216078354 [GRCh38]
Chr1:216251696 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14145G>A (p.Val4715=) single nucleotide variant not provided [RCV002157063] Chr1:215650790 [GRCh38]
Chr1:215824132 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2796T>C (p.Asn932=) single nucleotide variant not provided [RCV002219707] Chr1:216246598 [GRCh38]
Chr1:216419940 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11373A>C (p.Val3791=) single nucleotide variant not provided [RCV002120730] Chr1:215758611 [GRCh38]
Chr1:215931953 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5322G>A (p.Leu1774=) single nucleotide variant not provided [RCV002183571] Chr1:216078339 [GRCh38]
Chr1:216251681 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8223+20C>T single nucleotide variant not provided [RCV002217825] Chr1:215888406 [GRCh38]
Chr1:216061748 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5616T>G (p.Ala1872=) single nucleotide variant not provided [RCV002162280] Chr1:216073257 [GRCh38]
Chr1:216246599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6549T>C (p.His2183=) single nucleotide variant not provided [RCV002118887] Chr1:215998995 [GRCh38]
Chr1:216172337 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15234C>T (p.Pro5078=) single nucleotide variant not provided [RCV002101375] Chr1:215634522 [GRCh38]
Chr1:215807864 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14937C>T (p.Thr4979=) single nucleotide variant not provided [RCV002157293] Chr1:215640589 [GRCh38]
Chr1:215813931 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9055+17A>G single nucleotide variant not provided [RCV002180239] Chr1:215845807 [GRCh38]
Chr1:216019149 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+8G>A single nucleotide variant not provided [RCV002160476] Chr1:215798899 [GRCh38]
Chr1:215972241 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12423A>G (p.Ala4141=) single nucleotide variant not provided [RCV002160490] Chr1:215675488 [GRCh38]
Chr1:215848830 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3316+9A>T single nucleotide variant not provided [RCV002204370] Chr1:216207264 [GRCh38]
Chr1:216380606 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9231G>C (p.Leu3077=) single nucleotide variant not provided [RCV002162402] Chr1:215844321 [GRCh38]
Chr1:216017663 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15327T>C (p.Ser5109=) single nucleotide variant not provided [RCV002157423] Chr1:215629006 [GRCh38]
Chr1:215802348 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1346G>T (p.Arg449Leu) single nucleotide variant not specified [RCV002222944] Chr1:216323678 [GRCh38]
Chr1:216497020 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10597T>C (p.Tyr3533His) single nucleotide variant not specified [RCV002222945] Chr1:215782185 [GRCh38]
Chr1:215955527 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.171A>G (p.Val57=) single nucleotide variant not provided [RCV002175246] Chr1:216422166 [GRCh38]
Chr1:216595508 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10182+13A>G single nucleotide variant not provided [RCV002117526] Chr1:215790046 [GRCh38]
Chr1:215963388 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13938A>G (p.Pro4646=) single nucleotide variant not provided [RCV002119514] Chr1:215671167 [GRCh38]
Chr1:215844509 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.522G>A (p.Val174=) single nucleotide variant not provided [RCV002121440] Chr1:216418643 [GRCh38]
Chr1:216591985 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8187A>C (p.Pro2729=) single nucleotide variant not provided [RCV002103180] Chr1:215888462 [GRCh38]
Chr1:216061804 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6325+20C>T single nucleotide variant not provided [RCV002137196] Chr1:216046411 [GRCh38]
Chr1:216219753 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13497C>T (p.Leu4499=) single nucleotide variant not provided [RCV002203252] Chr1:215674414 [GRCh38]
Chr1:215847756 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13980G>T (p.Pro4660=) single nucleotide variant not provided [RCV002197909] Chr1:215671125 [GRCh38]
Chr1:215844467 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1995G>A (p.Lys665=) single nucleotide variant not provided [RCV002139299] Chr1:216251075 [GRCh38]
Chr1:216424417 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7752T>C (p.Asn2584=) single nucleotide variant not provided [RCV002159265] Chr1:215888897 [GRCh38]
Chr1:216062239 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4233T>C (p.Ile1411=) single nucleotide variant not provided [RCV002155854] Chr1:216196571 [GRCh38]
Chr1:216369913 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5299-15dup duplication not provided [RCV002139114] Chr1:216078376..216078377 [GRCh38]
Chr1:216251718..216251719 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.4525C>T (p.Leu1509=) single nucleotide variant not provided [RCV002139162] Chr1:216175354 [GRCh38]
Chr1:216348696 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13617A>G (p.Lys4539=) single nucleotide variant not provided [RCV002203388] Chr1:215674294 [GRCh38]
Chr1:215847636 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12297A>G (p.Thr4099=) single nucleotide variant not provided [RCV002159642] Chr1:215675614 [GRCh38]
Chr1:215848956 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11047+9A>G single nucleotide variant not provided [RCV002121668] Chr1:215766672 [GRCh38]
Chr1:215940014 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13911T>C (p.Pro4637=) single nucleotide variant not provided [RCV002203165] Chr1:215671194 [GRCh38]
Chr1:215844536 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1971+11C>A single nucleotide variant not provided [RCV002183103] Chr1:216289269 [GRCh38]
Chr1:216462611 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6049+20A>G single nucleotide variant not provided [RCV002135494] Chr1:216070081 [GRCh38]
Chr1:216243423 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14931G>A (p.Leu4977=) single nucleotide variant not provided [RCV002157866] Chr1:215640595 [GRCh38]
Chr1:215813937 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10617T>C (p.Asn3539=) single nucleotide variant not provided [RCV002123287] Chr1:215782165 [GRCh38]
Chr1:215955507 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8558+17A>G single nucleotide variant not provided [RCV002135777] Chr1:215878747 [GRCh38]
Chr1:216052089 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6326-6C>T single nucleotide variant not provided [RCV002081643] Chr1:216000568 [GRCh38]
Chr1:216173910 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2091T>C (p.Asn697=) single nucleotide variant not provided [RCV002140752] Chr1:216250979 [GRCh38]
Chr1:216424321 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10914T>C (p.Thr3638=) single nucleotide variant not provided [RCV002161830] Chr1:215779868 [GRCh38]
Chr1:215953210 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8421A>G (p.Thr2807=) single nucleotide variant not provided [RCV002154152] Chr1:215878901 [GRCh38]
Chr1:216052243 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10182+19C>T single nucleotide variant not provided [RCV002203673] Chr1:215790040 [GRCh38]
Chr1:215963382 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4950G>T (p.Gly1650=) single nucleotide variant not provided [RCV002135875] Chr1:216086756 [GRCh38]
Chr1:216260098 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2181T>C (p.Asp727=) single nucleotide variant not provided [RCV002216987] Chr1:216247213 [GRCh38]
Chr1:216420555 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4885+8C>T single nucleotide variant not provided [RCV002098379] Chr1:216089005 [GRCh38]
Chr1:216262347 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.784+18G>T single nucleotide variant not provided [RCV002177482] Chr1:216364935 [GRCh38]
Chr1:216538277 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1371G>A (p.Leu457=) single nucleotide variant not provided [RCV002156271] Chr1:216323653 [GRCh38]
Chr1:216496995 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4356T>C (p.Cys1452=) single nucleotide variant not provided [RCV002100484] Chr1:216190263 [GRCh38]
Chr1:216363605 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7536C>T (p.Ala2512=) single nucleotide variant not provided [RCV002221060] Chr1:215900133 [GRCh38]
Chr1:216073475 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.153C>T (p.Ile51=) single nucleotide variant not provided [RCV002139768] Chr1:216422184 [GRCh38]
Chr1:216595526 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12522C>T (p.Ser4174=) single nucleotide variant not provided [RCV002221117] Chr1:215675389 [GRCh38]
Chr1:215848731 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15339G>A (p.Val5113=) single nucleotide variant not provided [RCV002135912] Chr1:215628994 [GRCh38]
Chr1:215802336 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4899C>T (p.Ile1633=) single nucleotide variant not provided [RCV002083724] Chr1:216086807 [GRCh38]
Chr1:216260149 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4242G>A (p.Ala1414=) single nucleotide variant not provided [RCV002100341] Chr1:216196562 [GRCh38]
Chr1:216369904 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10158G>A (p.Lys3386=) single nucleotide variant not provided [RCV002175999] Chr1:215790083 [GRCh38]
Chr1:215963425 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5776+13T>C single nucleotide variant not provided [RCV002138024] Chr1:216073084 [GRCh38]
Chr1:216246426 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5167+15A>G single nucleotide variant not provided [RCV002183677] Chr1:216084683 [GRCh38]
Chr1:216258025 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15052+9C>T single nucleotide variant not provided [RCV002175820] Chr1:215639146 [GRCh38]
Chr1:215812488 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1698A>G (p.Gln566=) single nucleotide variant not provided [RCV002219073] Chr1:216292317 [GRCh38]
Chr1:216465659 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.486-20T>C single nucleotide variant not provided [RCV002200319] Chr1:216418699 [GRCh38]
Chr1:216592041 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5304G>A (p.Glu1768=) single nucleotide variant not provided [RCV002156505] Chr1:216078357 [GRCh38]
Chr1:216251699 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10183-18C>T single nucleotide variant not provided [RCV002220972] Chr1:215786892 [GRCh38]
Chr1:215960234 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9513G>C (p.Val3171=) single nucleotide variant not provided [RCV002160226] Chr1:215817054 [GRCh38]
Chr1:215990396 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9210G>C (p.Gly3070=) single nucleotide variant not provided [RCV002123808] Chr1:215844342 [GRCh38]
Chr1:216017684 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4758+9G>T single nucleotide variant not provided [RCV002123809] Chr1:216097074 [GRCh38]
Chr1:216270416 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12312T>C (p.Ser4104=) single nucleotide variant not provided [RCV002136194] Chr1:215675599 [GRCh38]
Chr1:215848941 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6164-4A>G single nucleotide variant not provided [RCV002219399] Chr1:216046596 [GRCh38]
Chr1:216219938 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1218T>C (p.Ser406=) single nucleotide variant not provided [RCV002154699] Chr1:216324278 [GRCh38]
Chr1:216497620 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3948A>G (p.Ala1316=) single nucleotide variant not provided [RCV002158545] Chr1:216198448 [GRCh38]
Chr1:216371790 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7890A>G (p.Pro2630=) single nucleotide variant not provided [RCV002198758] Chr1:215888759 [GRCh38]
Chr1:216062101 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12795T>C (p.Gly4265=) single nucleotide variant not provided [RCV002118539] Chr1:215675116 [GRCh38]
Chr1:215848458 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9258+9A>G single nucleotide variant not provided [RCV002154963] Chr1:215844285 [GRCh38]
Chr1:216017627 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13500C>A (p.Thr4500=) single nucleotide variant not provided [RCV002203923] Chr1:215674411 [GRCh38]
Chr1:215847753 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11355G>C (p.Gly3785=) single nucleotide variant not provided [RCV002183935] Chr1:215758629 [GRCh38]
Chr1:215931971 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7761G>A (p.Val2587=) single nucleotide variant not provided [RCV002183947] Chr1:215888888 [GRCh38]
Chr1:216062230 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13521C>T (p.Tyr4507=) single nucleotide variant not provided [RCV002154784] Chr1:215674390 [GRCh38]
Chr1:215847732 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11793C>T (p.Thr3931=) single nucleotide variant not provided [RCV002158649] Chr1:215728303 [GRCh38]
Chr1:215901645 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3258T>C (p.Thr1086=) single nucleotide variant not provided [RCV002082424] Chr1:216207331 [GRCh38]
Chr1:216380673 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3111C>T (p.Pro1037=) single nucleotide variant not provided [RCV002118451] Chr1:216217433 [GRCh38]
Chr1:216390775 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7648T>C (p.Leu2550=) single nucleotide variant not provided [RCV002118452] Chr1:215889001 [GRCh38]
Chr1:216062343 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4133_4134del (p.Leu1378fs) microsatellite not provided [RCV002221809]   pathogenic
NM_206933.4(USH2A):c.3158-12A>G single nucleotide variant not provided [RCV002179968] Chr1:216207443 [GRCh38]
Chr1:216380785 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11490T>G (p.Leu3830=) single nucleotide variant not provided [RCV002118749] Chr1:215743235 [GRCh38]
Chr1:215916577 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13167T>C (p.Tyr4389=) single nucleotide variant not provided [RCV002181663] Chr1:215674744 [GRCh38]
Chr1:215848086 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12546T>C (p.Asn4182=) single nucleotide variant not provided [RCV002184099] Chr1:215675365 [GRCh38]
Chr1:215848707 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2079C>T (p.Pro693=) single nucleotide variant not provided [RCV002182046] Chr1:216250991 [GRCh38]
Chr1:216424333 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11136T>G (p.Val3712=) single nucleotide variant not provided [RCV002202395] Chr1:215759755 [GRCh38]
Chr1:215933097 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11880T>A (p.Thr3960=) single nucleotide variant not provided [RCV002202398] Chr1:215728216 [GRCh38]
Chr1:215901558 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10881G>A (p.Gln3627=) single nucleotide variant not provided [RCV002155262] Chr1:215779901 [GRCh38]
Chr1:215953243 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5721G>C (p.Leu1907=) single nucleotide variant not provided [RCV002178528] Chr1:216073152 [GRCh38]
Chr1:216246494 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1550+16T>C single nucleotide variant not provided [RCV002204748] Chr1:216323458 [GRCh38]
Chr1:216496800 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8569C>T (p.Leu2857=) single nucleotide variant not provided [RCV002122267] Chr1:215877870 [GRCh38]
Chr1:216051212 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15438C>T (p.Ser5146=) single nucleotide variant not provided [RCV002122354] Chr1:215628895 [GRCh38]
Chr1:215802237 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14748C>A (p.Gly4916=) single nucleotide variant not provided [RCV002181966] Chr1:215647565 [GRCh38]
Chr1:215820907 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.852G>A (p.Glu284=) single nucleotide variant not provided [RCV002184481] Chr1:216325596 [GRCh38]
Chr1:216498938 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15129C>T (p.Phe5043=) single nucleotide variant not provided [RCV002217975] Chr1:215634627 [GRCh38]
Chr1:215807969 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.225T>C (p.Ser75=) single nucleotide variant not provided [RCV002120864] Chr1:216422112 [GRCh38]
Chr1:216595454 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.687C>G (p.Gly229=) single nucleotide variant not provided [RCV002219970] Chr1:216365050 [GRCh38]
Chr1:216538392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14582+7G>C single nucleotide variant not provided [RCV002103244] Chr1:215648521 [GRCh38]
Chr1:215821863 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9468T>G (p.Thr3156=) single nucleotide variant not provided [RCV002160998] Chr1:215817099 [GRCh38]
Chr1:215990441 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9672T>C (p.Gly3224=) single nucleotide variant not provided [RCV002121225] Chr1:215813803 [GRCh38]
Chr1:215987145 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13811+17C>T single nucleotide variant not provided [RCV002202674] Chr1:215674083 [GRCh38]
Chr1:215847425 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.785-13T>C single nucleotide variant not provided [RCV002202723] Chr1:216327667 [GRCh38]
Chr1:216501009 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10586-7C>A single nucleotide variant not provided [RCV002182615] Chr1:215782203 [GRCh38]
Chr1:215955545 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4251+12T>G single nucleotide variant not provided [RCV002159221] Chr1:216196541 [GRCh38]
Chr1:216369883 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7128T>C (p.Asn2376=) single nucleotide variant not provided [RCV002140589] Chr1:215934788 [GRCh38]
Chr1:216108130 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6246T>C (p.Asn2082=) single nucleotide variant not provided [RCV002139053] Chr1:216046510 [GRCh38]
Chr1:216219852 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9005G>T (p.Gly3002Val) single nucleotide variant not provided [RCV003110840] Chr1:215845874 [GRCh38]
Chr1:216019216 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3748A>G (p.Lys1250Glu) single nucleotide variant not provided [RCV003110879] Chr1:216199690 [GRCh38]
Chr1:216373032 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10298A>G (p.Asn3433Ser) single nucleotide variant not provided [RCV003110663] Chr1:215786759 [GRCh38]
Chr1:215960101 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15142G>T (p.Ala5048Ser) single nucleotide variant not provided [RCV003110771] Chr1:215634614 [GRCh38]
Chr1:215807956 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215799123)_(215844655_?)dup duplication not provided [RCV003114087] Chr1:215799123..215844655 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215812487)_(215824153_?)dup duplication not provided [RCV003114088] Chr1:215812487..215824153 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216380707)_(216382383_?)del deletion not provided [RCV003114089] Chr1:216380707..216382383 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216003270)_(216011369_?)del deletion not provided [RCV003114090] Chr1:216003270..216011369 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215940031)_(215950286_?)del deletion not provided [RCV003114091] Chr1:215940031..215950286 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216348574)_(216348844_?)del deletion not provided [RCV003114092] Chr1:216348574..216348844 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215916519)_(215916677_?)del deletion not provided [RCV003114093] Chr1:215916519..215916677 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216348574)_(216363729_?)del deletion not provided [RCV003114094] Chr1:216348574..216363729 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216260041)_(216270575_?)del deletion not provided [RCV003114095] Chr1:216260041..216270575 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215940023)_(216108137_?)del deletion not provided [RCV003114096] Chr1:215940023..216108137 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215987058)_(216019395_?)del deletion not provided [RCV003114097] Chr1:215987058..216019395 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216495205)_(216501016_?)del deletion not provided [RCV003114098] Chr1:216495205..216501016 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215931917)_(215933205_?)dup duplication not provided [RCV003114100] Chr1:215931917..215933205 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_215847432)_(215853728_?)dup duplication not provided [RCV003114101] Chr1:215847432..215853728 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.336C>G (p.Asp112Glu) single nucleotide variant not provided [RCV003111933] Chr1:216422001 [GRCh38]
Chr1:216595343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1526T>G (p.Val509Gly) single nucleotide variant not provided [RCV003111939] Chr1:216323498 [GRCh38]
Chr1:216496840 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9665G>T (p.Cys3222Phe) single nucleotide variant not provided [RCV003111996] Chr1:215813810 [GRCh38]
Chr1:215987152 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6937G>C (p.Gly2313Arg) single nucleotide variant not provided [RCV003117055] Chr1:215970645 [GRCh38]
Chr1:216143987 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.10159del (p.Ile3387fs) deletion not provided [RCV003118186] Chr1:215790082 [GRCh38]
Chr1:215963424 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6646A>C (p.Ile2216Leu) single nucleotide variant not provided [RCV003118305] Chr1:215998898 [GRCh38]
Chr1:216172240 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5777-1G>A single nucleotide variant not provided [RCV003112103] Chr1:216072970 [GRCh38]
Chr1:216246312 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15576_15579del (p.Lys5192fs) deletion not provided [RCV003115581] Chr1:215625811..215625814 [GRCh38]
Chr1:215799153..215799156 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9425G>T (p.Gly3142Val) single nucleotide variant not provided [RCV003117202] Chr1:215817142 [GRCh38]
Chr1:215990484 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15053-17_15053-14del microsatellite not provided [RCV003112846] Chr1:215634717..215634720 [GRCh38]
Chr1:215808059..215808062 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7867G>T (p.Ala2623Ser) single nucleotide variant not provided [RCV003117874] Chr1:215888782 [GRCh38]
Chr1:216062124 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216017626)_(216017848_?)del deletion not provided [RCV003114058] Chr1:216017626..216017848 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215853471)_(215853738_?)del deletion not provided [RCV003114059] Chr1:215853471..215853738 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216363555)_(216405488_?)del deletion not provided [RCV003114060] Chr1:216363555..216405488 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216348574)_(216405498_?)del deletion not provided [RCV003114061] Chr1:216348574..216405498 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216363555)_(216390902_?)del deletion not provided [RCV003114062] Chr1:216363555..216390902 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216369875)_(216373483_?)del deletion not provided [RCV003114063] Chr1:216369875..216373483 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216173735)_(216348834_?)del deletion not provided [RCV003114064] Chr1:216173735..216348834 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215953165)_(216270575_?)del deletion not provided [RCV003114065] Chr1:215953165..216270575 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215844304)_(216270565_?)del deletion not provided [RCV003114066] Chr1:215844304..216270565 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216243423)_(216262501_?)del deletion not provided [RCV003114067] Chr1:216243423..216262501 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216166342)_(216260182_?)del deletion not provided [RCV003114068] Chr1:216166342..216260182 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216251421)_(216258229_?)del deletion not provided [RCV003114069] Chr1:216251421..216258229 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216172219)_(216173914_?)del deletion not provided [RCV003114070] Chr1:216172219..216173914 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216107938)_(216173924_?)del deletion not provided [RCV003114071] Chr1:216107938..216173924 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215799123)_(216538447_?)del deletion not provided [RCV003114072] Chr1:215799123..216538447 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216017616)_(216019395_?)del deletion not provided [RCV003114073] Chr1:216017616..216019395 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_216419917)_(216501006_?)del deletion not provided [RCV003114075] Chr1:216419917..216501006 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215847422)_(215901746_?)del deletion not provided [RCV003114076] Chr1:215847422..215901746 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215799123)_(215844655_?)del deletion not provided [RCV003114077] Chr1:215799123..215844655 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215807781)_(215812600_?)del deletion not provided [RCV003114078] Chr1:215807781..215812600 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215799113)_(215802387_?)del deletion not provided [RCV003114079] Chr1:215799113..215802387 [GRCh37]
Chr1:1q41
pathogenic
NC_000001.10:g.(?_215914697)_(215914899_?)dup duplication not provided [RCV003114080] Chr1:215914697..215914899 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216462612)_(216596610_?)dup duplication not provided [RCV003114081] Chr1:216462612..216596610 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216591836)_(216596610_?)dup duplication not provided [RCV003114082] Chr1:216591836..216596610 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(?_216138649)_(216465722_?)dup duplication not provided [RCV003114083] Chr1:216138649..216465722 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_216405285)_(216424450_?)dup duplication not provided [RCV003114084] Chr1:216405285..216424450 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(?_215799113)_(216390902_?)dup duplication not provided [RCV003114085] Chr1:215799113..216390902 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.283C>A (p.Pro95Thr) single nucleotide variant not provided [RCV003118557] Chr1:216422054 [GRCh38]
Chr1:216595396 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3324A>G (p.Gln1108=) single nucleotide variant not provided [RCV003118582] Chr1:216200114 [GRCh38]
Chr1:216373456 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7502A>G (p.Gln2501Arg) single nucleotide variant not provided [RCV003121390] Chr1:215900167 [GRCh38]
Chr1:216073509 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.22T>A (p.Leu8Met) single nucleotide variant not provided [RCV003121415] Chr1:216422315 [GRCh38]
Chr1:216595657 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6360A>T (p.Leu2120=) single nucleotide variant not provided [RCV003121421] Chr1:216000528 [GRCh38]
Chr1:216173870 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5459T>G (p.Met1820Arg) single nucleotide variant not provided [RCV003121441] Chr1:216078202 [GRCh38]
Chr1:216251544 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1800G>C (p.Gly600=) single nucleotide variant not provided [RCV003118817] Chr1:216292215 [GRCh38]
Chr1:216465557 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1551-27A>G single nucleotide variant not provided [RCV003118874] Chr1:216322003 [GRCh38]
Chr1:216495345 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del deletion Usher syndrome [RCV003123561] Chr1:215972248..216074248 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs) deletion Usher syndrome [RCV003123562] Chr1:215680231..215680232 [GRCh38]
Chr1:215853573..215853574 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13838C>T (p.Thr4613Ile) single nucleotide variant not provided [RCV003119984] Chr1:215671267 [GRCh38]
Chr1:215844609 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile) single nucleotide variant Usher syndrome type 2A [RCV003130939] Chr1:215743275 [GRCh38]
Chr1:215916617 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.530T>G (p.Leu177Arg) single nucleotide variant not provided [RCV003149271] Chr1:216418635 [GRCh38]
Chr1:216591977 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4009T>A (p.Phe1337Ile) single nucleotide variant not provided [RCV002259517] Chr1:216198387 [GRCh38]
Chr1:216371729 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4812T>A (p.Asp1604Glu) single nucleotide variant not provided [RCV002255016] Chr1:216089086 [GRCh38]
Chr1:216262428 [GRCh37]
Chr1:1q41
uncertain significance
R1578C variation Retinitis pigmentosa 39 [RCV003152442]   pathogenic
NM_206933.4(USH2A):c.14835del (p.Val4946fs) deletion Usher syndrome type 2A [RCV002250929] Chr1:215640691 [GRCh38]
Chr1:215814033 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4858C>T (p.Gln1620Ter) single nucleotide variant Usher syndrome type 2A [RCV002251041] Chr1:216089040 [GRCh38]
Chr1:216262382 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12409A>G (p.Arg4137Gly) single nucleotide variant not provided [RCV003149527] Chr1:215675502 [GRCh38]
Chr1:215848844 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13034_13045del (p.Lys4345_Ser4348del) deletion not provided [RCV003234287] Chr1:215674866..215674877 [GRCh38]
Chr1:215848208..215848219 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10830G>A (p.Trp3610Ter) single nucleotide variant not provided [RCV003234411] Chr1:215779952 [GRCh38]
Chr1:215953294 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.784+14389G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003231057] Chr1:216350564 [GRCh38]
Chr1:216523906 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7471G>T (p.Ala2491Ser) single nucleotide variant Inborn genetic diseases [RCV003254450] Chr1:215900198 [GRCh38]
Chr1:216073540 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7472C>T (p.Ala2491Val) single nucleotide variant Inborn genetic diseases [RCV003254451] Chr1:215900197 [GRCh38]
Chr1:216073539 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13757A>G (p.His4586Arg) single nucleotide variant not specified [RCV002266196] Chr1:215674154 [GRCh38]
Chr1:215847496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003454058]|Usher syndrome type 2A [RCV003454057]|not provided [RCV003101490]|not specified [RCV002266198] Chr1:216190305 [GRCh38]
Chr1:216363647 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8480T>A (p.Leu2827Ter) single nucleotide variant Usher syndrome type 2A [RCV002272595] Chr1:215878842 [GRCh38]
Chr1:216052184 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10817T>C (p.Leu3606Pro) single nucleotide variant Retinitis pigmentosa 39 [RCV003471315]|not provided [RCV002287043] Chr1:215779965 [GRCh38]
Chr1:215953307 [GRCh37]
Chr1:1q41
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.14583-39A>G single nucleotide variant not provided [RCV002279103] Chr1:215647769 [GRCh38]
Chr1:215821111 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3722_3729delinsTCA (p.Ala1241fs) indel not provided [RCV002275946] Chr1:216199709..216199716 [GRCh38]
Chr1:216373051..216373058 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11056G>T (p.Val3686Leu) single nucleotide variant not provided [RCV002269621] Chr1:215759835 [GRCh38]
Chr1:215933177 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3730C>T (p.Gln1244Ter) single nucleotide variant Pigmentary retinopathy [RCV002287651]|Retinitis pigmentosa 39 [RCV003454076]|not provided [RCV003097723] Chr1:216199708 [GRCh38]
Chr1:216373050 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003454082]|Usher syndrome type 2A [RCV003454081]|not provided [RCV002293721] Chr1:215628960 [GRCh38]
Chr1:215802302 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12019G>A (p.Asp4007Asn) single nucleotide variant not provided [RCV002293921] Chr1:215728077 [GRCh38]
Chr1:215901419 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12267A>T (p.Glu4089Asp) single nucleotide variant not provided [RCV002286155] Chr1:215680176 [GRCh38]
Chr1:215853518 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3507G>C (p.Trp1169Cys) single nucleotide variant not provided [RCV002292025] Chr1:216199931 [GRCh38]
Chr1:216373273 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11390-93T>A single nucleotide variant not provided [RCV002292122] Chr1:215743428 [GRCh38]
Chr1:215916770 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12708T>A (p.Cys4236Ter) single nucleotide variant Usher syndrome type 2A [RCV002283787] Chr1:215675203 [GRCh38]
Chr1:215848545 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14595A>G (p.Gln4865=) single nucleotide variant Retinitis pigmentosa 39 [RCV003454071]|Usher syndrome type 2A [RCV003454070]|not provided [RCV002286174] Chr1:215647718 [GRCh38]
Chr1:215821060 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe) single nucleotide variant Retinitis pigmentosa 39 [RCV003454073]|Usher syndrome type 2A [RCV003454072]|not provided [RCV002286249] Chr1:215680249 [GRCh38]
Chr1:215853591 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003454067]|Usher syndrome type 2A [RCV003454066]|not provided [RCV002283199]|not specified [RCV002300678] Chr1:215648635 [GRCh38]
Chr1:215821977 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7054C>T (p.Pro2352Ser) single nucleotide variant not specified [RCV003236363] Chr1:215965383 [GRCh38]
Chr1:216138725 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6383G>A (p.Cys2128Tyr) single nucleotide variant not specified [RCV003236364] Chr1:216000505 [GRCh38]
Chr1:216173847 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14966A>G (p.Lys4989Arg) single nucleotide variant not provided [RCV002281478] Chr1:215640560 [GRCh38]
Chr1:215813902 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_206933.4(USH2A):c.126C>G (p.Asn42Lys) single nucleotide variant Cone-rod dystrophy 3 [RCV002272769] Chr1:216422211 [GRCh38]
Chr1:216595553 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3158-1G>T single nucleotide variant Usher syndrome type 2A [RCV002289261] Chr1:216207432 [GRCh38]
Chr1:216380774 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4342A>C (p.Asn1448His) single nucleotide variant Retinitis pigmentosa 39 [RCV003234848] Chr1:216190277 [GRCh38]
Chr1:216363619 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003454063]|Usher syndrome type 2A [RCV003454062]|not provided [RCV002281367] Chr1:215741375 [GRCh38]
Chr1:215914717 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln) single nucleotide variant Inborn genetic diseases [RCV003097715]|Retinitis pigmentosa 39 [RCV003454075]|Usher syndrome type 2A [RCV003454074]|not provided [RCV002287127] Chr1:215799092 [GRCh38]
Chr1:215972434 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12266A>T (p.Glu4089Val) single nucleotide variant not provided [RCV002285953] Chr1:215680177 [GRCh38]
Chr1:215853519 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter) single nucleotide variant Usher syndrome type 2A [RCV002284020] Chr1:215888508 [GRCh38]
Chr1:216061850 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs) indel Usher syndrome type 2A [RCV002282977] Chr1:216421935..216421936 [GRCh38]
Chr1:216595277..216595278 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val) single nucleotide variant Retinitis pigmentosa 39 [RCV003454060]|Usher syndrome type 2A [RCV003454059]|not provided [RCV002267426] Chr1:215965332 [GRCh38]
Chr1:216138674 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1487C>T (p.Thr496Ile) single nucleotide variant not provided [RCV002297158] Chr1:216323537 [GRCh38]
Chr1:216496879 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly) single nucleotide variant Usher syndrome type 2A [RCV002282738] Chr1:215647630 [GRCh38]
Chr1:215820972 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12116A>G (p.Tyr4039Cys) single nucleotide variant not specified [RCV002266197] Chr1:215680327 [GRCh38]
Chr1:215853669 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12289A>G (p.Ile4097Val) single nucleotide variant not provided [RCV002297732] Chr1:215680154 [GRCh38]
Chr1:215853496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6157C>G (p.Gln2053Glu) single nucleotide variant not provided [RCV003129520] Chr1:216048540 [GRCh38]
Chr1:216221882 [GRCh37]
Chr1:1q41
uncertain significance
C934W variation Retinitis pigmentosa 39 [RCV003152440]   pathogenic
NM_206933.4(USH2A):c.6958-7C>T single nucleotide variant not provided [RCV002681731] Chr1:215965486 [GRCh38]
Chr1:216138828 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1469A>C (p.His490Pro) single nucleotide variant Usher syndrome type 2A [RCV002470658] Chr1:216323555 [GRCh38]
Chr1:216496897 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7808G>T (p.Cys2603Phe) single nucleotide variant not provided [RCV002467259] Chr1:215888841 [GRCh38]
Chr1:216062183 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003455528]|Usher syndrome type 2A [RCV003455527]|not provided [RCV002467277] Chr1:215766735 [GRCh38]
Chr1:215940077 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2588A>G (p.Lys863Arg) single nucleotide variant not provided [RCV002302968] Chr1:216246806 [GRCh38]
Chr1:216420148 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2411C>T (p.Pro804Leu) single nucleotide variant Inborn genetic diseases [RCV003287296] Chr1:216246983 [GRCh38]
Chr1:216420325 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs) microsatellite Usher syndrome type 2A [RCV003153030] Chr1:216083562..216083563 [GRCh38]
Chr1:216256904..216256905 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5699G>C (p.Cys1900Ser) single nucleotide variant not provided [RCV002474087] Chr1:216073174 [GRCh38]
Chr1:216246516 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14910G>A (p.Gly4970=) single nucleotide variant not provided [RCV002967598] Chr1:215640616 [GRCh38]
Chr1:215813958 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13301C>A (p.Ser4434Ter) single nucleotide variant Usher syndrome type 2A [RCV002306489] Chr1:215674610 [GRCh38]
Chr1:215847952 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11099T>A (p.Leu3700Ter) single nucleotide variant Usher syndrome type 2A [RCV002306560] Chr1:215759792 [GRCh38]
Chr1:215933134 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2683C>T (p.Gln895Ter) single nucleotide variant Usher syndrome type 2A [RCV002306607] Chr1:216246711 [GRCh38]
Chr1:216420053 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4651A>T (p.Lys1551Ter) single nucleotide variant Usher syndrome type 2A [RCV002306777] Chr1:216097190 [GRCh38]
Chr1:216270532 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter) single nucleotide variant Usher syndrome type 2A [RCV002306837] Chr1:215877771 [GRCh38]
Chr1:216051113 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.352C>A (p.Pro118Thr) single nucleotide variant not provided [RCV002304428] Chr1:216421985 [GRCh38]
Chr1:216595327 [GRCh37]
Chr1:1q41
uncertain significance
NC_000001.11:g.(?_216462679)_(216462739_?)del deletion Usher syndrome type 2A [RCV002444386] Chr1:216462679..216462739 [GRCh38]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3685_3686del (p.Leu1229fs) deletion Usher syndrome type 2A [RCV002308204] Chr1:216199752..216199753 [GRCh38]
Chr1:216373094..216373095 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12854G>T (p.Trp4285Leu) single nucleotide variant not provided [RCV002304666] Chr1:215675057 [GRCh38]
Chr1:215848399 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4620C>G (p.Asp1540Glu) single nucleotide variant not provided [RCV002304716] Chr1:216175259 [GRCh38]
Chr1:216348601 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14437T>C (p.Cys4813Arg) single nucleotide variant not provided [RCV002299166] Chr1:215648673 [GRCh38]
Chr1:215822015 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13447G>T (p.Gly4483Ter) single nucleotide variant Usher syndrome type 2A [RCV002308059] Chr1:215674464 [GRCh38]
Chr1:215847806 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter) single nucleotide variant Usher syndrome type 2A [RCV002309369] Chr1:216200106 [GRCh38]
Chr1:216373448 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs) indel Usher syndrome type 2A [RCV002309414] Chr1:216217463 [GRCh38]
Chr1:216390805 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter) single nucleotide variant Usher syndrome type 2A [RCV002309239] Chr1:215741460 [GRCh38]
Chr1:215914802 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter) single nucleotide variant Usher syndrome type 2A [RCV002309260] Chr1:215888467 [GRCh38]
Chr1:216061809 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter) single nucleotide variant Usher syndrome type 2A [RCV002309278] Chr1:216199815 [GRCh38]
Chr1:216373157 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter) single nucleotide variant Usher syndrome type 2A [RCV002309287] Chr1:216247017 [GRCh38]
Chr1:216420359 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.11:g.(?_216108034)_(216108100_?)del deletion Usher syndrome type 2A [RCV002444385] Chr1:216108034..216108100 [GRCh38]
Chr1:1q41
likely pathogenic
NC_000001.11:g.(?_216270461)_(216260162_?)del deletion Usher syndrome type 2A [RCV002444387]   pathogenic
NM_206933.4(USH2A):c.10580C>G (p.Ser3527Ter) single nucleotide variant Usher syndrome type 2A [RCV002308228] Chr1:215782743 [GRCh38]
Chr1:215956085 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs) indel Usher syndrome type 2A [RCV002308234] Chr1:216325450..216325451 [GRCh38]
Chr1:216498792..216498793 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10843A>T (p.Lys3615Ter) single nucleotide variant Usher syndrome type 2A [RCV002309827] Chr1:215779939 [GRCh38]
Chr1:215953281 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2416_2417insT (p.Thr806fs) insertion Usher syndrome type 2A [RCV002309887] Chr1:216246977..216246978 [GRCh38]
Chr1:216420319..216420320 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.956del (p.Cys319fs) deletion Usher syndrome type 2A [RCV002309954] Chr1:216325492 [GRCh38]
Chr1:216498834 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs) indel Usher syndrome type 2A [RCV002310406] Chr1:216323524..216323525 [GRCh38]
Chr1:216496866..216496867 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10508G>A (p.Ser3503Asn) single nucleotide variant not provided [RCV002300247] Chr1:215782815 [GRCh38]
Chr1:215956157 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9607G>T (p.Gly3203Ter) single nucleotide variant Usher syndrome type 2A [RCV002308101] Chr1:215813868 [GRCh38]
Chr1:215987210 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9379C>T (p.Gln3127Ter) single nucleotide variant Usher syndrome type 2A [RCV002309747] Chr1:215817188 [GRCh38]
Chr1:215990530 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3837del (p.Leu1278_Tyr1279insTer) deletion Usher syndrome type 2A [RCV002308509] Chr1:216198559 [GRCh38]
Chr1:216371901 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2966A>G (p.Tyr989Cys) single nucleotide variant not provided [RCV002301314] Chr1:216231980 [GRCh38]
Chr1:216405322 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2451C>A (p.Cys817Ter) single nucleotide variant Usher syndrome type 2A [RCV002308222] Chr1:216246943 [GRCh38]
Chr1:216420285 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1659del (p.Leu553fs) deletion Usher syndrome type 2A [RCV002308342] Chr1:216292356 [GRCh38]
Chr1:216465698 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter) single nucleotide variant Usher syndrome type 2A [RCV002308352] Chr1:215674265 [GRCh38]
Chr1:215847607 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12993T>A (p.Tyr4331Ter) single nucleotide variant Usher syndrome type 2A [RCV002306660] Chr1:215674918 [GRCh38]
Chr1:215848260 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2962_2964delinsAA (p.His988fs) indel Usher syndrome type 2A [RCV002306727] Chr1:216231982..216231984 [GRCh38]
Chr1:216405324..216405326 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs) deletion Usher syndrome type 2A [RCV002310356] Chr1:216199953..216199954 [GRCh38]
Chr1:216373295..216373296 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs) deletion Usher syndrome type 2A [RCV002310584] Chr1:216246664..216246665 [GRCh38]
Chr1:216420006..216420007 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1850G>A (p.Cys617Tyr) single nucleotide variant Usher syndrome type 2 [RCV002308732] Chr1:216289401 [GRCh38]
Chr1:216462743 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6638_6641del (p.Lys2213fs) microsatellite Usher syndrome type 2 [RCV002308733] Chr1:215998903..215998906 [GRCh38]
Chr1:216172245..216172248 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.658C>T (p.Gln220Ter) single nucleotide variant Usher syndrome type 2A [RCV002306788] Chr1:216365079 [GRCh38]
Chr1:216538421 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3082_3083del (p.Thr1028fs) deletion Usher syndrome type 2A [RCV002306483] Chr1:216217461..216217462 [GRCh38]
Chr1:216390803..216390804 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter) single nucleotide variant Usher syndrome type 2A [RCV002310543] Chr1:215674429 [GRCh38]
Chr1:215847771 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.46G>A (p.Val16Ile) single nucleotide variant not specified [RCV002308636] Chr1:216422291 [GRCh38]
Chr1:216595633 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter) single nucleotide variant Usher syndrome type 2A [RCV002307006] Chr1:216324261 [GRCh38]
Chr1:216497603 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter) single nucleotide variant Usher syndrome type 2A [RCV002307012] Chr1:215647652 [GRCh38]
Chr1:215820994 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4000A>T (p.Lys1334Ter) single nucleotide variant Usher syndrome type 2A [RCV002306604] Chr1:216198396 [GRCh38]
Chr1:216371738 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1645-2A>G single nucleotide variant Usher syndrome type 2 [RCV002308477]|Usher syndrome type 2A [RCV003152795]|not provided [RCV003099163] Chr1:216292372 [GRCh38]
Chr1:216465714 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9914_9915del (p.Glu3305fs) microsatellite Retinitis pigmentosa 39 [RCV003475338]|Usher syndrome type 2 [RCV002308478]|not provided [RCV003099164] Chr1:215798950..215798951 [GRCh38]
Chr1:215972292..215972293 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8233A>T (p.Lys2745Ter) single nucleotide variant Usher syndrome type 2A [RCV002306722] Chr1:215879089 [GRCh38]
Chr1:216052431 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter) single nucleotide variant Usher syndrome type 2A [RCV002307180] Chr1:216048641 [GRCh38]
Chr1:216221983 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter) single nucleotide variant Usher syndrome type 2A [RCV002306862] Chr1:216199627 [GRCh38]
Chr1:216372969 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2017T>C (p.Cys673Arg) single nucleotide variant not provided [RCV002301203] Chr1:216251053 [GRCh38]
Chr1:216424395 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter) single nucleotide variant Usher syndrome type 2A [RCV002307336] Chr1:216072915 [GRCh38]
Chr1:216246257 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs) insertion Usher syndrome type 2A [RCV002306872] Chr1:216325433..216325434 [GRCh38]
Chr1:216498775..216498776 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6662G>A (p.Cys2221Tyr) single nucleotide variant not provided [RCV002301261] Chr1:215993163 [GRCh38]
Chr1:216166505 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5693T>C (p.Val1898Ala) single nucleotide variant not provided [RCV002308984] Chr1:216073180 [GRCh38]
Chr1:216246522 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs) deletion Usher syndrome type 2A [RCV002307220] Chr1:216324320..216324326 [GRCh38]
Chr1:216497662..216497668 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8303T>A (p.Leu2768Ter) single nucleotide variant Usher syndrome type 2A [RCV002307919] Chr1:215879019 [GRCh38]
Chr1:216052361 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9055G>T (p.Glu3019Ter) single nucleotide variant Usher syndrome type 2A [RCV002307971] Chr1:215845824 [GRCh38]
Chr1:216019166 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs) deletion Usher syndrome type 2A [RCV002309065] Chr1:216198497..216198504 [GRCh38]
Chr1:216371839..216371846 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7327C>G (p.Leu2443Val) single nucleotide variant not provided [RCV002296255] Chr1:215900879 [GRCh38]
Chr1:216074221 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3072_3075del (p.Lys1024fs) deletion Usher syndrome type 2A [RCV002306692] Chr1:216217469..216217472 [GRCh38]
Chr1:216390811..216390814 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1971+14A>C single nucleotide variant not specified [RCV002302604] Chr1:216289266 [GRCh38]
Chr1:216462608 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter) single nucleotide variant Usher syndrome type 2 [RCV002308734] Chr1:215844365 [GRCh38]
Chr1:216017707 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7809C>A (p.Cys2603Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464446]|Usher syndrome type 2 [RCV002308735] Chr1:215888840 [GRCh38]
Chr1:216062182 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12313_12319del (p.Asp4105fs) deletion Usher syndrome type 2 [RCV002308736]|not provided [RCV003102292] Chr1:215675592..215675598 [GRCh38]
Chr1:215848934..215848940 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2846_2849del (p.Leu949fs) microsatellite Usher syndrome type 2A [RCV002306805] Chr1:216232097..216232100 [GRCh38]
Chr1:216405439..216405442 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter) single nucleotide variant Usher syndrome type 2A [RCV002308413] Chr1:215970751 [GRCh38]
Chr1:216144093 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1860C>A (p.Cys620Ter) single nucleotide variant Usher syndrome type 2 [RCV002310609] Chr1:216289391 [GRCh38]
Chr1:216462733 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.793C>T (p.Gln265Ter) single nucleotide variant Usher syndrome type 2A [RCV002306878] Chr1:216327646 [GRCh38]
Chr1:216500988 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9145G>A (p.Val3049Ile) single nucleotide variant not provided [RCV002301791] Chr1:215844407 [GRCh38]
Chr1:216017749 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10256A>G (p.Asn3419Ser) single nucleotide variant not provided [RCV002295544] Chr1:215786801 [GRCh38]
Chr1:215960143 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2512C>A (p.Gln838Lys) single nucleotide variant not provided [RCV002301452] Chr1:216246882 [GRCh38]
Chr1:216420224 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2258G>A (p.Gly753Asp) single nucleotide variant not provided [RCV002301518] Chr1:216247136 [GRCh38]
Chr1:216420478 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter) single nucleotide variant Usher syndrome type 2A [RCV002309189] Chr1:215674950 [GRCh38]
Chr1:215848292 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13511A>C (p.Glu4504Ala) single nucleotide variant not provided [RCV002303052] Chr1:215674400 [GRCh38]
Chr1:215847742 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs) deletion Usher syndrome type 2A [RCV002309290] Chr1:216323595..216323596 [GRCh38]
Chr1:216496937..216496938 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs) indel Usher syndrome type 2A [RCV002309357] Chr1:216246969..216246971 [GRCh38]
Chr1:216420311..216420313 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1994del (p.Lys665fs) deletion Usher syndrome type 2A [RCV002309165] Chr1:216251076 [GRCh38]
Chr1:216424418 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter) single nucleotide variant Usher syndrome type 2A [RCV002309244] Chr1:216247077 [GRCh38]
Chr1:216420419 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4206_4207insC (p.Ser1403fs) insertion Usher syndrome type 2A [RCV002309888] Chr1:216196597..216196598 [GRCh38]
Chr1:216369939..216369940 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3517_3518del (p.Ser1173fs) microsatellite Usher syndrome type 2A [RCV002310008] Chr1:216199920..216199921 [GRCh38]
Chr1:216373262..216373263 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs) indel Usher syndrome type 2A [RCV002310440] Chr1:216323629..216323630 [GRCh38]
Chr1:216496971..216496972 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.734_735del (p.Ser245fs) deletion Usher syndrome type 2A [RCV002308171] Chr1:216365002..216365003 [GRCh38]
Chr1:216538344..216538345 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10486G>T (p.Glu3496Ter) single nucleotide variant Usher syndrome type 2A [RCV002310055] Chr1:215782837 [GRCh38]
Chr1:215956179 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2525del (p.Phe842fs) deletion Usher syndrome type 2A [RCV002310147] Chr1:216246869 [GRCh38]
Chr1:216420211 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2876_2877del (p.Val959fs) deletion Usher syndrome type 2A [RCV002306710] Chr1:216232069..216232070 [GRCh38]
Chr1:216405411..216405412 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464447]|Usher syndrome type 2A [RCV002310316] Chr1:216247125 [GRCh38]
Chr1:216420467 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12131T>A (p.Val4044Glu) single nucleotide variant not provided [RCV002296119] Chr1:215680312 [GRCh38]
Chr1:215853654 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8860C>T (p.Gln2954Ter) single nucleotide variant Usher syndrome type 2A [RCV002306476] Chr1:215846019 [GRCh38]
Chr1:216019361 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1435_1439del (p.Phe479fs) deletion Usher syndrome type 2A [RCV002306521] Chr1:216323585..216323589 [GRCh38]
Chr1:216496927..216496931 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12955A>C (p.Thr4319Pro) single nucleotide variant not provided [RCV002301990] Chr1:215674956 [GRCh38]
Chr1:215848298 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5003G>C (p.Gly1668Ala) single nucleotide variant not provided [RCV002301364] Chr1:216084862 [GRCh38]
Chr1:216258204 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5902G>T (p.Gly1968Ter) single nucleotide variant Usher syndrome type 2A [RCV002306587] Chr1:216070248 [GRCh38]
Chr1:216243590 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2468_2469insTATAA (p.Arg824fs) insertion Usher syndrome type 2A [RCV002306655] Chr1:216246925..216246926 [GRCh38]
Chr1:216420267..216420268 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5870_5871del (p.Val1957fs) microsatellite not provided [RCV002861887] Chr1:216070279..216070280 [GRCh38]
Chr1:216243621..216243622 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14585A>G (p.Tyr4862Cys) single nucleotide variant not provided [RCV002616972] Chr1:215647728 [GRCh38]
Chr1:215821070 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6805+20C>T single nucleotide variant not provided [RCV003014425] Chr1:215993000 [GRCh38]
Chr1:216166342 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4886-33_4894dup duplication not provided [RCV002838990] Chr1:216086811..216086812 [GRCh38]
Chr1:216260153..216260154 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10404C>G (p.Pro3468=) single nucleotide variant not provided [RCV002816195] Chr1:215782919 [GRCh38]
Chr1:215956261 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1199A>G (p.Gln400Arg) single nucleotide variant not provided [RCV002731191] Chr1:216324297 [GRCh38]
Chr1:216497639 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11067A>G (p.Arg3689=) single nucleotide variant not provided [RCV003013957] Chr1:215759824 [GRCh38]
Chr1:215933166 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13536C>A (p.Ser4512Arg) single nucleotide variant not provided [RCV002863200] Chr1:215674375 [GRCh38]
Chr1:215847717 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.784+13C>G single nucleotide variant not provided [RCV003015827] Chr1:216364940 [GRCh38]
Chr1:216538282 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.652-19T>C single nucleotide variant not provided [RCV002771218] Chr1:216365104 [GRCh38]
Chr1:216538446 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4100C>T (p.Pro1367Leu) single nucleotide variant not provided [RCV003095558] Chr1:216196704 [GRCh38]
Chr1:216370046 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_206933.4(USH2A):c.483A>G (p.Val161=) single nucleotide variant not provided [RCV002861520] Chr1:216421854 [GRCh38]
Chr1:216595196 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8373C>T (p.Val2791=) single nucleotide variant not provided [RCV002862016] Chr1:215878949 [GRCh38]
Chr1:216052291 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5842C>A (p.Arg1948Ser) single nucleotide variant not provided [RCV003075205] Chr1:216072904 [GRCh38]
Chr1:216246246 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3196dup (p.Ser1066fs) duplication not provided [RCV002967718] Chr1:216207392..216207393 [GRCh38]
Chr1:216380734..216380735 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8094T>G (p.Tyr2698Ter) single nucleotide variant not provided [RCV003033032] Chr1:215888555 [GRCh38]
Chr1:216061897 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4141T>C (p.Ser1381Pro) single nucleotide variant not provided [RCV003033033] Chr1:216196663 [GRCh38]
Chr1:216370005 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14079C>T (p.Ser4693=) single nucleotide variant not provided [RCV002614199] Chr1:215671026 [GRCh38]
Chr1:215844368 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13010C>G (p.Thr4337Arg) single nucleotide variant not provided [RCV002815506] Chr1:215674901 [GRCh38]
Chr1:215848243 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3157del (p.Thr1053fs) deletion not provided [RCV002815974] Chr1:216217387 [GRCh38]
Chr1:216390729 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.713A>G (p.Asn238Ser) single nucleotide variant not provided [RCV002750958] Chr1:216365024 [GRCh38]
Chr1:216538366 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10182+10A>G single nucleotide variant not provided [RCV002616336] Chr1:215790049 [GRCh38]
Chr1:215963391 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5691T>C (p.Ala1897=) single nucleotide variant not provided [RCV002616338] Chr1:216073182 [GRCh38]
Chr1:216246524 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4498T>C (p.Tyr1500His) single nucleotide variant not provided [RCV003075197] Chr1:216175381 [GRCh38]
Chr1:216348723 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6628C>T (p.Pro2210Ser) single nucleotide variant not provided [RCV002751196] Chr1:215998916 [GRCh38]
Chr1:216172258 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2296T>A (p.Cys766Ser) single nucleotide variant not provided [RCV002754949] Chr1:216247098 [GRCh38]
Chr1:216420440 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8327T>G (p.Leu2776Ter) single nucleotide variant not provided [RCV002903894] Chr1:215878995 [GRCh38]
Chr1:216052337 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8546G>A (p.Gly2849Glu) single nucleotide variant not provided [RCV002903906] Chr1:215878776 [GRCh38]
Chr1:216052118 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11387C>T (p.Pro3796Leu) single nucleotide variant not provided [RCV002775931] Chr1:215758597 [GRCh38]
Chr1:215931939 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12269C>T (p.Pro4090Leu) single nucleotide variant not provided [RCV002995744] Chr1:215680174 [GRCh38]
Chr1:215853516 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.110T>A (p.Phe37Tyr) single nucleotide variant not provided [RCV003013731] Chr1:216422227 [GRCh38]
Chr1:216595569 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13218G>A (p.Leu4406=) single nucleotide variant not provided [RCV002837919] Chr1:215674693 [GRCh38]
Chr1:215848035 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.996G>A (p.Val332=) single nucleotide variant not provided [RCV002880891] Chr1:216325452 [GRCh38]
Chr1:216498794 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2322A>G (p.Gly774=) single nucleotide variant not provided [RCV003033595] Chr1:216247072 [GRCh38]
Chr1:216420414 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.93T>C (p.Thr31=) single nucleotide variant not provided [RCV002838062] Chr1:216422244 [GRCh38]
Chr1:216595586 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4224A>G (p.Gln1408=) single nucleotide variant not provided [RCV002750816] Chr1:216196580 [GRCh38]
Chr1:216369922 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4081+11A>G single nucleotide variant not provided [RCV002615144] Chr1:216198304 [GRCh38]
Chr1:216371646 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11548+18A>G single nucleotide variant not provided [RCV002775295] Chr1:215743159 [GRCh38]
Chr1:215916501 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10939+5G>A single nucleotide variant not provided [RCV003074555] Chr1:215779838 [GRCh38]
Chr1:215953180 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.848+19G>A single nucleotide variant not provided [RCV002903119] Chr1:216327572 [GRCh38]
Chr1:216500914 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12048G>A (p.Val4016=) single nucleotide variant not provided [RCV002857846] Chr1:215728048 [GRCh38]
Chr1:215901390 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+5G>A single nucleotide variant not provided [RCV003011657] Chr1:216175247 [GRCh38]
Chr1:216348589 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11756C>G (p.Ser3919Ter) single nucleotide variant not provided [RCV002816117] Chr1:215728340 [GRCh38]
Chr1:215901682 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2493G>A (p.Glu831=) single nucleotide variant not provided [RCV002995496] Chr1:216246901 [GRCh38]
Chr1:216420243 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11738C>A (p.Ser3913Tyr) single nucleotide variant not provided [RCV002838968] Chr1:215728358 [GRCh38]
Chr1:215901700 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3529G>C (p.Gly1177Arg) single nucleotide variant not provided [RCV003014255] Chr1:216199909 [GRCh38]
Chr1:216373251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5394A>G (p.Gly1798=) single nucleotide variant not provided [RCV002991721] Chr1:216078267 [GRCh38]
Chr1:216251609 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12816C>G (p.Ser4272=) single nucleotide variant not provided [RCV002730337] Chr1:215675095 [GRCh38]
Chr1:215848437 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4134C>A (p.Leu1378=) single nucleotide variant not provided [RCV002863199] Chr1:216196670 [GRCh38]
Chr1:216370012 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4627+3_4627+6del deletion not provided [RCV002841975] Chr1:216175246..216175249 [GRCh38]
Chr1:216348588..216348591 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9129T>C (p.Pro3043=) single nucleotide variant not provided [RCV002862798] Chr1:215844423 [GRCh38]
Chr1:216017765 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15290A>G (p.Asn5097Ser) single nucleotide variant not provided [RCV003074291] Chr1:215634466 [GRCh38]
Chr1:215807808 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8098del (p.Val2700fs) deletion not provided [RCV002880436] Chr1:215888551 [GRCh38]
Chr1:216061893 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8001A>G (p.Glu2667=) single nucleotide variant not provided [RCV002862814] Chr1:215888648 [GRCh38]
Chr1:216061990 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12683C>T (p.Thr4228Ile) single nucleotide variant not provided [RCV003074315] Chr1:215675228 [GRCh38]
Chr1:215848570 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13185T>A (p.Asn4395Lys) single nucleotide variant not provided [RCV003015021] Chr1:215674726 [GRCh38]
Chr1:215848068 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5127T>C (p.Cys1709=) single nucleotide variant not provided [RCV002837686] Chr1:216084738 [GRCh38]
Chr1:216258080 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15543G>C (p.Met5181Ile) single nucleotide variant not provided [RCV002776238] Chr1:215625847 [GRCh38]
Chr1:215799189 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15053-15_15053-12del deletion not provided [RCV002815292] Chr1:215634715..215634718 [GRCh38]
Chr1:215808057..215808060 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3750G>A (p.Lys1250=) single nucleotide variant not provided [RCV002815299] Chr1:216199688 [GRCh38]
Chr1:216373030 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5769T>C (p.Pro1923=) single nucleotide variant not provided [RCV002819756] Chr1:216073104 [GRCh38]
Chr1:216246446 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9388T>G (p.Trp3130Gly) single nucleotide variant not provided [RCV002734794] Chr1:215817179 [GRCh38]
Chr1:215990521 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5613T>C (p.Gly1871=) single nucleotide variant not provided [RCV002948158] Chr1:216073260 [GRCh38]
Chr1:216246602 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11711+6A>T single nucleotide variant not provided [RCV003077059] Chr1:215741369 [GRCh38]
Chr1:215914711 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7137C>G (p.Thr2379=) single nucleotide variant not provided [RCV002815355] Chr1:215934779 [GRCh38]
Chr1:216108121 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9478G>A (p.Val3160Met) single nucleotide variant not provided [RCV002616215] Chr1:215817089 [GRCh38]
Chr1:215990431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15297+17G>A single nucleotide variant not provided [RCV003077073] Chr1:215634442 [GRCh38]
Chr1:215807784 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val) single nucleotide variant Inborn genetic diseases [RCV002970995]|Retinitis pigmentosa 39 [RCV003455631]|Usher syndrome type 2A [RCV003455630]|not provided [RCV002970994] Chr1:216198576 [GRCh38]
Chr1:216371918 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8854G>T (p.Asp2952Tyr) single nucleotide variant Inborn genetic diseases [RCV002863987] Chr1:215846025 [GRCh38]
Chr1:216019367 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1268G>A (p.Gly423Glu) single nucleotide variant not provided [RCV003076843] Chr1:216324228 [GRCh38]
Chr1:216497570 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8186C>G (p.Pro2729Arg) single nucleotide variant not provided [RCV002690188] Chr1:215888463 [GRCh38]
Chr1:216061805 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12401C>T (p.Ala4134Val) single nucleotide variant not provided [RCV002843552] Chr1:215675510 [GRCh38]
Chr1:215848852 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11549-1G>T single nucleotide variant not provided [RCV002971969] Chr1:215741538 [GRCh38]
Chr1:215914880 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5251G>A (p.Gly1751Arg) single nucleotide variant not provided [RCV002816382] Chr1:216083503 [GRCh38]
Chr1:216256845 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7077_7078del (p.Leu2359fs) deletion not provided [RCV002843349] Chr1:215965359..215965360 [GRCh38]
Chr1:216138701..216138702 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.219T>C (p.Ala73=) single nucleotide variant not provided [RCV003035024] Chr1:216422118 [GRCh38]
Chr1:216595460 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4110C>G (p.Val1370=) single nucleotide variant not provided [RCV002975558] Chr1:216196694 [GRCh38]
Chr1:216370036 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1678C>A (p.Pro560Thr) single nucleotide variant not provided [RCV002690428] Chr1:216292337 [GRCh38]
Chr1:216465679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9630G>A (p.Lys3210=) single nucleotide variant not provided [RCV002681590] Chr1:215813845 [GRCh38]
Chr1:215987187 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8344C>T (p.His2782Tyr) single nucleotide variant Inborn genetic diseases [RCV002864685] Chr1:215878978 [GRCh38]
Chr1:216052320 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu) single nucleotide variant Retinitis pigmentosa 39 [RCV003455522]|Usher syndrome type 2A [RCV003455521]|not provided [RCV002462371] Chr1:215634584 [GRCh38]
Chr1:215807926 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4497A>T (p.Ile1499=) single nucleotide variant not provided [RCV003017443] Chr1:216175382 [GRCh38]
Chr1:216348724 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12624C>G (p.Asp4208Glu) single nucleotide variant not provided [RCV003017449] Chr1:215675287 [GRCh38]
Chr1:215848629 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9787A>G (p.Ile3263Val) single nucleotide variant not provided [RCV002775136] Chr1:215799078 [GRCh38]
Chr1:215972420 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7673A>T (p.Lys2558Ile) single nucleotide variant not provided [RCV003095552] Chr1:215888976 [GRCh38]
Chr1:216062318 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13340T>C (p.Met4447Thr) single nucleotide variant not provided [RCV003035259] Chr1:215674571 [GRCh38]
Chr1:215847913 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2994-12C>T single nucleotide variant not provided [RCV002681717] Chr1:216217562 [GRCh38]
Chr1:216390904 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3655T>C (p.Ser1219Pro) single nucleotide variant not provided [RCV003015111] Chr1:216199783 [GRCh38]
Chr1:216373125 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5730G>C (p.Gln1910His) single nucleotide variant Inborn genetic diseases [RCV002817343] Chr1:216073143 [GRCh38]
Chr1:216246485 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4313G>C (p.Arg1438Thr) single nucleotide variant not provided [RCV003097636] Chr1:216190306 [GRCh38]
Chr1:216363648 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5324C>A (p.Thr1775Asn) single nucleotide variant Inborn genetic diseases [RCV002793597] Chr1:216078337 [GRCh38]
Chr1:216251679 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14130T>G (p.Tyr4710Ter) single nucleotide variant not provided [RCV002842788] Chr1:215670975 [GRCh38]
Chr1:215844317 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14589A>G (p.Glu4863=) single nucleotide variant not provided [RCV003016982] Chr1:215647724 [GRCh38]
Chr1:215821066 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8605C>A (p.Pro2869Thr) single nucleotide variant not provided [RCV003077079] Chr1:215877834 [GRCh38]
Chr1:216051176 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9298G>T (p.Gly3100Ter) single nucleotide variant not provided [RCV002881401] Chr1:215838064 [GRCh38]
Chr1:216011406 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5252G>A (p.Gly1751Glu) single nucleotide variant not provided [RCV003016657] Chr1:216083502 [GRCh38]
Chr1:216256844 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10939+2T>G single nucleotide variant not provided [RCV002907698] Chr1:215779841 [GRCh38]
Chr1:215953183 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8845+8A>G single nucleotide variant not provided [RCV003016693] Chr1:215866999 [GRCh38]
Chr1:216040341 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4073G>A (p.Gly1358Glu) single nucleotide variant not provided [RCV002756159] Chr1:216198323 [GRCh38]
Chr1:216371665 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5837G>A (p.Arg1946Gln) single nucleotide variant not provided [RCV003076688] Chr1:216072909 [GRCh38]
Chr1:216246251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13681G>A (p.Asp4561Asn) single nucleotide variant not provided [RCV003017592] Chr1:215674230 [GRCh38]
Chr1:215847572 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2691C>A (p.Cys897Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464636]|not provided [RCV002908609] Chr1:216246703 [GRCh38]
Chr1:216420045 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.4987+14G>A single nucleotide variant not provided [RCV002780096] Chr1:216086705 [GRCh38]
Chr1:216260047 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11824del (p.Val3942fs) deletion not provided [RCV003035260] Chr1:215728272 [GRCh38]
Chr1:215901614 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1590A>C (p.Thr530=) single nucleotide variant not provided [RCV003035261] Chr1:216321937 [GRCh38]
Chr1:216495279 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4759-6C>T single nucleotide variant not provided [RCV002843898] Chr1:216089145 [GRCh38]
Chr1:216262487 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4328C>A (p.Thr1443Asn) single nucleotide variant not provided [RCV002975673] Chr1:216190291 [GRCh38]
Chr1:216363633 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.615A>G (p.Arg205=) single nucleotide variant not provided [RCV002908390] Chr1:216418550 [GRCh38]
Chr1:216591892 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1803A>G (p.Gly601=) single nucleotide variant not provided [RCV003017274] Chr1:216292212 [GRCh38]
Chr1:216465554 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7800A>G (p.Val2600=) single nucleotide variant not provided [RCV002685767] Chr1:215888849 [GRCh38]
Chr1:216062191 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1298C>A (p.Pro433His) single nucleotide variant not provided [RCV003076048] Chr1:216324198 [GRCh38]
Chr1:216497540 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11931T>C (p.Ser3977=) single nucleotide variant not provided [RCV002996816] Chr1:215728165 [GRCh38]
Chr1:215901507 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2481T>C (p.Asn827=) single nucleotide variant not provided [RCV003034794] Chr1:216246913 [GRCh38]
Chr1:216420255 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10586-10C>A single nucleotide variant not provided [RCV002997045] Chr1:215782206 [GRCh38]
Chr1:215955548 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1548del (p.Arg517fs) deletion not provided [RCV002865969] Chr1:216323476 [GRCh38]
Chr1:216496818 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10398C>A (p.Leu3466=) single nucleotide variant not provided [RCV003014661] Chr1:215782925 [GRCh38]
Chr1:215956267 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8088T>A (p.Tyr2696Ter) single nucleotide variant not provided [RCV002618044] Chr1:215888561 [GRCh38]
Chr1:216061903 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1979_1980insGGCTTTAAAAGCAGATGCTGAGAGAACACCTGGGATCTGAGGCTGCCTCAAAAGGCNNNNNNNNNNGCAAGCATCTGACAGCCTGGAACAGAACCCTGCACCCGCGAGTGAGGATCAGACAGCCTGGAGCAGCACCC (p.Gly660_Gln661insAlaLeuLysAlaAspAlaGluArgThrProGlyIleTer) insertion not provided [RCV002882019] Chr1:216251090..216251091 [GRCh38]
Chr1:216424432..216424433 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14792-7C>T single nucleotide variant not provided [RCV002997073] Chr1:215640741 [GRCh38]
Chr1:215814083 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1216A>G (p.Ser406Gly) single nucleotide variant not provided [RCV003017459] Chr1:216324280 [GRCh38]
Chr1:216497622 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14912G>A (p.Arg4971Gln) single nucleotide variant Inborn genetic diseases [RCV002770405]|not provided [RCV002756645] Chr1:215640614 [GRCh38]
Chr1:215813956 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.11712A>G (p.Arg3904=) single nucleotide variant not provided [RCV003013151] Chr1:215728384 [GRCh38]
Chr1:215901726 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2334C>T (p.Asp778=) single nucleotide variant not provided [RCV002993618] Chr1:216247060 [GRCh38]
Chr1:216420402 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1152T>C (p.Tyr384=) single nucleotide variant not provided [RCV002616163] Chr1:216324344 [GRCh38]
Chr1:216497686 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3002C>G (p.Pro1001Arg) single nucleotide variant not provided [RCV002776589] Chr1:216217542 [GRCh38]
Chr1:216390884 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7300+10T>C single nucleotide variant not provided [RCV002862077] Chr1:215934606 [GRCh38]
Chr1:216107948 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6049+7G>A single nucleotide variant not provided [RCV002862698] Chr1:216070094 [GRCh38]
Chr1:216243436 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-15A>T single nucleotide variant not provided [RCV002681461] Chr1:216247241 [GRCh38]
Chr1:216420583 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5777-9C>T single nucleotide variant not provided [RCV002726693] Chr1:216072978 [GRCh38]
Chr1:216246320 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8766T>C (p.Ala2922=) single nucleotide variant not provided [RCV003013527] Chr1:215867086 [GRCh38]
Chr1:216040428 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12294+10A>G single nucleotide variant not provided [RCV002615793] Chr1:215680139 [GRCh38]
Chr1:215853481 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9772C>A (p.Arg3258=) single nucleotide variant not provided [RCV002880497] Chr1:215799093 [GRCh38]
Chr1:215972435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5113A>T (p.Ser1705Cys) single nucleotide variant not provided [RCV002996195] Chr1:216084752 [GRCh38]
Chr1:216258094 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4362C>T (p.Thr1454=) single nucleotide variant not provided [RCV002995311] Chr1:216190257 [GRCh38]
Chr1:216363599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1888G>T (p.Ala630Ser) single nucleotide variant not provided [RCV002617137] Chr1:216289363 [GRCh38]
Chr1:216462705 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5057C>T (p.Ala1686Val) single nucleotide variant not provided [RCV002681617] Chr1:216084808 [GRCh38]
Chr1:216258150 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15360T>C (p.Ser5120=) single nucleotide variant not provided [RCV002862751] Chr1:215628973 [GRCh38]
Chr1:215802315 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1383A>G (p.Pro461=) single nucleotide variant not provided [RCV002863036] Chr1:216323641 [GRCh38]
Chr1:216496983 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10983T>C (p.Cys3661=) single nucleotide variant not provided [RCV002991827] Chr1:215766745 [GRCh38]
Chr1:215940087 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5825G>A (p.Ser1942Asn) single nucleotide variant not provided [RCV003012258] Chr1:216072921 [GRCh38]
Chr1:216246263 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13015G>C (p.Gly4339Arg) single nucleotide variant not provided [RCV002730331] Chr1:215674896 [GRCh38]
Chr1:215848238 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3317-20T>A single nucleotide variant not provided [RCV003033528] Chr1:216200141 [GRCh38]
Chr1:216373483 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2869G>A (p.Gly957Ser) single nucleotide variant not provided [RCV002751562] Chr1:216232077 [GRCh38]
Chr1:216405419 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4587A>G (p.Lys1529=) single nucleotide variant not provided [RCV002815924] Chr1:216175292 [GRCh38]
Chr1:216348634 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10092T>C (p.Ile3364=) single nucleotide variant not provided [RCV002862015] Chr1:215790149 [GRCh38]
Chr1:215963491 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13110T>A (p.Thr4370=) single nucleotide variant not provided [RCV003016503] Chr1:215674801 [GRCh38]
Chr1:215848143 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1383A>T (p.Pro461=) single nucleotide variant not provided [RCV002862026] Chr1:216323641 [GRCh38]
Chr1:216496983 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13474_13481del (p.Thr4492fs) deletion not provided [RCV003033547] Chr1:215674430..215674437 [GRCh38]
Chr1:215847772..215847779 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5624A>T (p.Asn1875Ile) single nucleotide variant not provided [RCV002815520] Chr1:216073249 [GRCh38]
Chr1:216246591 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15329G>A (p.Gly5110Glu) single nucleotide variant not provided [RCV002775873] Chr1:215629004 [GRCh38]
Chr1:215802346 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.102A>C (p.Arg34=) single nucleotide variant not provided [RCV003032549] Chr1:216422235 [GRCh38]
Chr1:216595577 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7743T>C (p.Asn2581=) single nucleotide variant not provided [RCV003033561] Chr1:215888906 [GRCh38]
Chr1:216062248 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10030T>G (p.Ser3344Ala) single nucleotide variant not provided [RCV002991394] Chr1:215790211 [GRCh38]
Chr1:215963553 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1050T>C (p.Val350=) single nucleotide variant not provided [RCV003095439] Chr1:216325398 [GRCh38]
Chr1:216498740 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9483G>A (p.Gln3161=) single nucleotide variant not provided [RCV003015989] Chr1:215817084 [GRCh38]
Chr1:215990426 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9717G>A (p.Gly3239=) single nucleotide variant not provided [RCV002903851] Chr1:215813758 [GRCh38]
Chr1:215987100 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8259C>T (p.Asp2753=) single nucleotide variant not provided [RCV002880246] Chr1:215879063 [GRCh38]
Chr1:216052405 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2238C>A (p.Pro746=) single nucleotide variant not provided [RCV002881041] Chr1:216247156 [GRCh38]
Chr1:216420498 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14238C>T (p.Ile4746=) single nucleotide variant not provided [RCV002880676] Chr1:215650697 [GRCh38]
Chr1:215824039 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.110del (p.Phe37fs) deletion not provided [RCV002995470] Chr1:216422227 [GRCh38]
Chr1:216595569 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6598T>C (p.Phe2200Leu) single nucleotide variant Inborn genetic diseases [RCV002753434] Chr1:215998946 [GRCh38]
Chr1:216172288 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7098T>C (p.Thr2366=) single nucleotide variant not provided [RCV002681100] Chr1:215965339 [GRCh38]
Chr1:216138681 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5956A>G (p.Lys1986Glu) single nucleotide variant not provided [RCV003014181] Chr1:216070194 [GRCh38]
Chr1:216243536 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13476A>G (p.Thr4492=) single nucleotide variant not provided [RCV003015582] Chr1:215674435 [GRCh38]
Chr1:215847777 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3657T>A (p.Ser1219=) single nucleotide variant not provided [RCV002731507] Chr1:216199781 [GRCh38]
Chr1:216373123 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13623G>A (p.Gln4541=) single nucleotide variant not provided [RCV002727035] Chr1:215674288 [GRCh38]
Chr1:215847630 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7697A>G (p.Tyr2566Cys) single nucleotide variant Inborn genetic diseases [RCV002879697] Chr1:215888952 [GRCh38]
Chr1:216062294 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14551_14560del (p.Pro4851fs) deletion not provided [RCV002880787] Chr1:215648550..215648559 [GRCh38]
Chr1:215821892..215821901 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11751C>G (p.Val3917=) single nucleotide variant not provided [RCV002863011] Chr1:215728345 [GRCh38]
Chr1:215901687 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8342C>G (p.Thr2781Ser) single nucleotide variant not provided [RCV002686346] Chr1:215878980 [GRCh38]
Chr1:216052322 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14483del (p.Pro4828fs) deletion not provided [RCV003033625] Chr1:215648627 [GRCh38]
Chr1:215821969 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14697C>T (p.Leu4899=) single nucleotide variant not provided [RCV003016357] Chr1:215647616 [GRCh38]
Chr1:215820958 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3417C>G (p.Val1139=) single nucleotide variant not provided [RCV003014256] Chr1:216200021 [GRCh38]
Chr1:216373363 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.607C>G (p.Leu203Val) single nucleotide variant not provided [RCV002775187] Chr1:216418558 [GRCh38]
Chr1:216591900 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15606G>T (p.Leu5202=) single nucleotide variant not provided [RCV002971492] Chr1:215625784 [GRCh38]
Chr1:215799126 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3321T>C (p.Ile1107=) single nucleotide variant not provided [RCV003073757] Chr1:216200117 [GRCh38]
Chr1:216373459 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.370dup (p.Ser124fs) duplication not provided [RCV002967653] Chr1:216421966..216421967 [GRCh38]
Chr1:216595308..216595309 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10904C>G (p.Thr3635Ser) single nucleotide variant Inborn genetic diseases [RCV002682652] Chr1:215779878 [GRCh38]
Chr1:215953220 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9315T>C (p.Thr3105=) single nucleotide variant not provided [RCV002815237] Chr1:215838047 [GRCh38]
Chr1:216011389 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2356_2357delinsAT (p.Gly786Met) indel not provided [RCV002904521] Chr1:216247037..216247038 [GRCh38]
Chr1:216420379..216420380 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11628G>A (p.Lys3876=) single nucleotide variant not provided [RCV002838701] Chr1:215741458 [GRCh38]
Chr1:215914800 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu) single nucleotide variant Inborn genetic diseases [RCV003098933]|Retinitis pigmentosa 39 [RCV003455709]|Usher syndrome type 2A [RCV003455708]|not provided [RCV003098932] Chr1:215867069 [GRCh38]
Chr1:216040411 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8391A>C (p.Ser2797=) single nucleotide variant not provided [RCV002843543] Chr1:215878931 [GRCh38]
Chr1:216052273 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2251del (p.Leu751fs) deletion not provided [RCV002880719] Chr1:216247143 [GRCh38]
Chr1:216420485 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12929G>T (p.Ser4310Ile) single nucleotide variant not provided [RCV002618071] Chr1:215674982 [GRCh38]
Chr1:215848324 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2916C>T (p.Cys972=) single nucleotide variant not provided [RCV003017052] Chr1:216232030 [GRCh38]
Chr1:216405372 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-24CT[14] microsatellite not provided [RCV003034881] Chr1:215743341..215743342 [GRCh38]
Chr1:215916683..215916684 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11390-18C>G single nucleotide variant not provided [RCV002880780] Chr1:215743353 [GRCh38]
Chr1:215916695 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13572A>C (p.Lys4524Asn) single nucleotide variant not provided [RCV002618399] Chr1:215674339 [GRCh38]
Chr1:215847681 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9669T>A (p.Cys3223Ter) single nucleotide variant not provided [RCV002881455] Chr1:215813806 [GRCh38]
Chr1:215987148 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10924C>T (p.Gln3642Ter) single nucleotide variant not provided [RCV002996112] Chr1:215779858 [GRCh38]
Chr1:215953200 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5935G>A (p.Val1979Ile) single nucleotide variant not provided [RCV002819105] Chr1:216070215 [GRCh38]
Chr1:216243557 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3328T>A (p.Phe1110Ile) single nucleotide variant not provided [RCV002461621] Chr1:216200110 [GRCh38]
Chr1:216373452 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10313C>T (p.Ala3438Val) single nucleotide variant not provided [RCV003076845] Chr1:215786744 [GRCh38]
Chr1:215960086 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3371A>G (p.Tyr1124Cys) single nucleotide variant not provided [RCV003012564] Chr1:216200067 [GRCh38]
Chr1:216373409 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13430A>T (p.Tyr4477Phe) single nucleotide variant not provided [RCV003073682] Chr1:215674481 [GRCh38]
Chr1:215847823 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.300T>A (p.Leu100=) single nucleotide variant not provided [RCV002618117] Chr1:216422037 [GRCh38]
Chr1:216595379 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10302C>T (p.Ser3434=) single nucleotide variant not provided [RCV003016073] Chr1:215786755 [GRCh38]
Chr1:215960097 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12066+8C>T single nucleotide variant not provided [RCV003034293] Chr1:215728022 [GRCh38]
Chr1:215901364 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.114A>G (p.Pro38=) single nucleotide variant not provided [RCV002967611] Chr1:216422223 [GRCh38]
Chr1:216595565 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2174G>A (p.Arg725Lys) single nucleotide variant not provided [RCV002618003] Chr1:216247220 [GRCh38]
Chr1:216420562 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.3795A>T (p.Pro1265=) single nucleotide variant not provided [RCV002997065] Chr1:216199643 [GRCh38]
Chr1:216372985 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7200T>C (p.Asp2400=) single nucleotide variant not provided [RCV002815366] Chr1:215934716 [GRCh38]
Chr1:216108058 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2638A>T (p.Asn880Tyr) single nucleotide variant not provided [RCV003016505] Chr1:216246756 [GRCh38]
Chr1:216420098 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10373C>G (p.Thr3458Arg) single nucleotide variant not provided [RCV003016515] Chr1:215786684 [GRCh38]
Chr1:215960026 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val) single nucleotide variant Inborn genetic diseases [RCV003103119]|Retinitis pigmentosa 39 [RCV003455520]|Usher syndrome type 2A [RCV003455519]|not provided [RCV002462364] Chr1:215879047 [GRCh38]
Chr1:216052389 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003455711]|Usher syndrome type 2A [RCV003455710]|not provided [RCV003099020] Chr1:215759688 [GRCh38]
Chr1:215933030 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5945dup (p.Val1983fs) duplication not provided [RCV003011919] Chr1:216070204..216070205 [GRCh38]
Chr1:216243546..216243547 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4545G>A (p.Thr1515=) single nucleotide variant not provided [RCV003099025] Chr1:216175334 [GRCh38]
Chr1:216348676 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3973A>G (p.Thr1325Ala) single nucleotide variant Inborn genetic diseases [RCV002841538] Chr1:216198423 [GRCh38]
Chr1:216371765 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3344T>G (p.Leu1115Arg) single nucleotide variant not provided [RCV003075412] Chr1:216200094 [GRCh38]
Chr1:216373436 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4698_4702del (p.Glu1567fs) deletion not provided [RCV003016223] Chr1:216097139..216097143 [GRCh38]
Chr1:216270481..216270485 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1827G>C (p.Glu609Asp) single nucleotide variant not provided [RCV003075896] Chr1:216292188 [GRCh38]
Chr1:216465530 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3306A>G (p.Gln1102=) single nucleotide variant not provided [RCV002882181] Chr1:216207283 [GRCh38]
Chr1:216380625 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8913C>G (p.Asp2971Glu) single nucleotide variant not provided [RCV002843348] Chr1:215845966 [GRCh38]
Chr1:216019308 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3172C>A (p.Pro1058Thr) single nucleotide variant not provided [RCV002461720] Chr1:216207417 [GRCh38]
Chr1:216380759 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7861C>G (p.Pro2621Ala) single nucleotide variant Inborn genetic diseases [RCV002882368] Chr1:215888788 [GRCh38]
Chr1:216062130 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5109T>G (p.Tyr1703Ter) single nucleotide variant not provided [RCV002819207] Chr1:216084756 [GRCh38]
Chr1:216258098 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14328T>C (p.His4776=) single nucleotide variant not provided [RCV002618146] Chr1:215650607 [GRCh38]
Chr1:215823949 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15389dup (p.Asn5130fs) duplication not provided [RCV002618319] Chr1:215628943..215628944 [GRCh38]
Chr1:215802285..215802286 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003455518]|Usher syndrome type 2A [RCV003455517]|not provided [RCV002461750] Chr1:215965409 [GRCh38]
Chr1:216138751 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4378G>T (p.Gly1460Ter) single nucleotide variant not provided [RCV003095381] Chr1:216190241 [GRCh38]
Chr1:216363583 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8559-17C>G single nucleotide variant not provided [RCV002731428] Chr1:215877897 [GRCh38]
Chr1:216051239 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14620_14629del (p.Ser4874fs) deletion not provided [RCV003033789] Chr1:215647684..215647693 [GRCh38]
Chr1:215821026..215821035 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.503_504inv (p.Thr168Met) inversion not provided [RCV003076329] Chr1:216418661..216418662 [GRCh38]
Chr1:216592003..216592004 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10516A>C (p.Thr3506Pro) single nucleotide variant not provided [RCV002756243] Chr1:215782807 [GRCh38]
Chr1:215956149 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.562T>C (p.Tyr188His) single nucleotide variant not provided [RCV003032532] Chr1:216418603 [GRCh38]
Chr1:216591945 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5802G>T (p.Ser1934=) single nucleotide variant not provided [RCV002816366] Chr1:216072944 [GRCh38]
Chr1:216246286 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9168T>C (p.Tyr3056=) single nucleotide variant not provided [RCV002616337] Chr1:215844384 [GRCh38]
Chr1:216017726 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10998C>T (p.Cys3666=) single nucleotide variant not provided [RCV002863676] Chr1:215766730 [GRCh38]
Chr1:215940072 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.736A>T (p.Ile246Phe) single nucleotide variant not provided [RCV003075566] Chr1:216365001 [GRCh38]
Chr1:216538343 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628-15C>T single nucleotide variant not provided [RCV003076660] Chr1:216097228 [GRCh38]
Chr1:216270570 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6371C>T (p.Thr2124Ile) single nucleotide variant not provided [RCV002461895] Chr1:216000517 [GRCh38]
Chr1:216173859 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10995G>C (p.Gly3665=) single nucleotide variant not provided [RCV003021365] Chr1:215766733 [GRCh38]
Chr1:215940075 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644+18C>A single nucleotide variant not provided [RCV003019786] Chr1:216321865 [GRCh38]
Chr1:216495207 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14289G>C (p.Gly4763=) single nucleotide variant not provided [RCV003039221] Chr1:215650646 [GRCh38]
Chr1:215823988 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14338A>G (p.Thr4780Ala) single nucleotide variant not provided [RCV002761684] Chr1:215650597 [GRCh38]
Chr1:215823939 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15297+1G>A single nucleotide variant not provided [RCV002823789] Chr1:215634458 [GRCh38]
Chr1:215807800 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14204C>A (p.Pro4735Gln) single nucleotide variant not provided [RCV002953826] Chr1:215650731 [GRCh38]
Chr1:215824073 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11231+19T>G single nucleotide variant not provided [RCV002910235] Chr1:215759641 [GRCh38]
Chr1:215932983 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2099G>A (p.Gly700Glu) single nucleotide variant not provided [RCV002705953] Chr1:216250971 [GRCh38]
Chr1:216424313 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11338A>C (p.Asn3780His) single nucleotide variant not provided [RCV002695636] Chr1:215758646 [GRCh38]
Chr1:215931988 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6156A>G (p.Pro2052=) single nucleotide variant not provided [RCV003039362] Chr1:216048541 [GRCh38]
Chr1:216221883 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.784+11G>C single nucleotide variant not provided [RCV002800527] Chr1:216364942 [GRCh38]
Chr1:216538284 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3582A>G (p.Pro1194=) single nucleotide variant not provided [RCV002785878] Chr1:216199856 [GRCh38]
Chr1:216373198 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11712-9T>G single nucleotide variant not provided [RCV002976153] Chr1:215728393 [GRCh38]
Chr1:215901735 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1661C>T (p.Pro554Leu) single nucleotide variant not provided [RCV003018238] Chr1:216292354 [GRCh38]
Chr1:216465696 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2381C>A (p.Ala794Asp) single nucleotide variant Inborn genetic diseases [RCV002950075] Chr1:216247013 [GRCh38]
Chr1:216420355 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10388-14T>C single nucleotide variant not provided [RCV002786112] Chr1:215782949 [GRCh38]
Chr1:215956291 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7686T>G (p.Val2562=) single nucleotide variant not provided [RCV003039652] Chr1:215888963 [GRCh38]
Chr1:216062305 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.738dup (p.Thr247fs) duplication not provided [RCV002870987] Chr1:216364998..216364999 [GRCh38]
Chr1:216538340..216538341 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.881T>C (p.Leu294Pro) single nucleotide variant not provided [RCV002691031] Chr1:216325567 [GRCh38]
Chr1:216498909 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2168-1G>T single nucleotide variant Usher syndrome type 2A [RCV002569458] Chr1:216247227 [GRCh38]
Chr1:216420569 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2993+17T>A single nucleotide variant not provided [RCV003039610] Chr1:216231936 [GRCh38]
Chr1:216405278 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.972A>G (p.Ala324=) single nucleotide variant not provided [RCV003055766] Chr1:216325476 [GRCh38]
Chr1:216498818 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12394del (p.Leu4132fs) deletion Retinitis pigmentosa 39 [RCV003465544]|not provided [RCV002544691] Chr1:215675517 [GRCh38]
Chr1:215848859 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1123T>G (p.Leu375Val) single nucleotide variant not provided [RCV002662622] Chr1:216325325 [GRCh38]
Chr1:216498667 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14958G>A (p.Thr4986=) single nucleotide variant not provided [RCV002785920] Chr1:215640568 [GRCh38]
Chr1:215813910 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15370C>T (p.Leu5124=) single nucleotide variant not provided [RCV002736077] Chr1:215628963 [GRCh38]
Chr1:215802305 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15139A>G (p.Met5047Val) single nucleotide variant not provided [RCV003055133] Chr1:215634617 [GRCh38]
Chr1:215807959 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8013C>T (p.Thr2671=) single nucleotide variant not provided [RCV002870964] Chr1:215888636 [GRCh38]
Chr1:216061978 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13940G>A (p.Gly4647Glu) single nucleotide variant not provided [RCV002740316] Chr1:215671165 [GRCh38]
Chr1:215844507 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3781_3782del (p.Val1261fs) deletion not provided [RCV003003269] Chr1:216199656..216199657 [GRCh38]
Chr1:216372998..216372999 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6695G>A (p.Ser2232Asn) single nucleotide variant not provided [RCV003003186] Chr1:215993130 [GRCh38]
Chr1:216166472 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2757G>A (p.Gln919=) single nucleotide variant not provided [RCV002953703] Chr1:216246637 [GRCh38]
Chr1:216419979 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-6dup duplication not provided [RCV003081599] Chr1:216073305..216073306 [GRCh38]
Chr1:216246647..216246648 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7120+17T>A single nucleotide variant not provided [RCV002780786] Chr1:215965300 [GRCh38]
Chr1:216138642 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15516A>G (p.Gly5172=) single nucleotide variant not provided [RCV002867851] Chr1:215628817 [GRCh38]
Chr1:215802159 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6805+10C>T single nucleotide variant not provided [RCV003037957] Chr1:215993010 [GRCh38]
Chr1:216166352 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13018G>A (p.Gly4340Arg) single nucleotide variant not provided [RCV002847983] Chr1:215674893 [GRCh38]
Chr1:215848235 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10209C>T (p.Cys3403=) single nucleotide variant not provided [RCV002889640] Chr1:215786848 [GRCh38]
Chr1:215960190 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7512A>C (p.Thr2504=) single nucleotide variant not provided [RCV003055755] Chr1:215900157 [GRCh38]
Chr1:216073499 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8371G>C (p.Val2791Leu) single nucleotide variant not provided [RCV002786011] Chr1:215878951 [GRCh38]
Chr1:216052293 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14107T>C (p.Leu4703=) single nucleotide variant not provided [RCV003019498] Chr1:215670998 [GRCh38]
Chr1:215844340 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12713A>G (p.Tyr4238Cys) single nucleotide variant not provided [RCV002662603] Chr1:215675198 [GRCh38]
Chr1:215848540 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5685C>T (p.Asp1895=) single nucleotide variant not provided [RCV002889645] Chr1:216073188 [GRCh38]
Chr1:216246530 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11770G>T (p.Glu3924Ter) single nucleotide variant not provided [RCV002848058] Chr1:215728326 [GRCh38]
Chr1:215901668 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.485+14T>C single nucleotide variant not provided [RCV003021773] Chr1:216421838 [GRCh38]
Chr1:216595180 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9018C>T (p.Ile3006=) single nucleotide variant not provided [RCV002662944] Chr1:215845861 [GRCh38]
Chr1:216019203 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11996G>A (p.Arg3999His) single nucleotide variant Inborn genetic diseases [RCV002634197]|not provided [RCV002640620] Chr1:215728100 [GRCh38]
Chr1:215901442 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.10924C>A (p.Gln3642Lys) single nucleotide variant not provided [RCV002800448] Chr1:215779858 [GRCh38]
Chr1:215953200 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4278A>G (p.Glu1426=) single nucleotide variant not provided [RCV003019557] Chr1:216190341 [GRCh38]
Chr1:216363683 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10627C>T (p.Arg3543Cys) single nucleotide variant not provided [RCV002914505] Chr1:215782155 [GRCh38]
Chr1:215955497 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3595G>A (p.Glu1199Lys) single nucleotide variant not provided [RCV003081647] Chr1:216199843 [GRCh38]
Chr1:216373185 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13133C>A (p.Pro4378Gln) single nucleotide variant not provided [RCV002780201] Chr1:215674778 [GRCh38]
Chr1:215848120 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7227T>G (p.Thr2409=) single nucleotide variant not provided [RCV002796469] Chr1:215934689 [GRCh38]
Chr1:216108031 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13337A>C (p.Asn4446Thr) single nucleotide variant not provided [RCV002620296] Chr1:215674574 [GRCh38]
Chr1:215847916 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11880T>C (p.Thr3960=) single nucleotide variant not provided [RCV003020059] Chr1:215728216 [GRCh38]
Chr1:215901558 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2225T>C (p.Val742Ala) single nucleotide variant not provided [RCV002785650] Chr1:216247169 [GRCh38]
Chr1:216420511 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14293G>A (p.Val4765Ile) single nucleotide variant Inborn genetic diseases [RCV003081606]|not provided [RCV003069095] Chr1:215650642 [GRCh38]
Chr1:215823984 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.9427T>C (p.Tyr3143His) single nucleotide variant not provided [RCV002623101] Chr1:215817140 [GRCh38]
Chr1:215990482 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1840+2dup duplication not provided [RCV003039547] Chr1:216292172..216292173 [GRCh38]
Chr1:216465514..216465515 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg) single nucleotide variant Sensorineural hearing loss disorder [RCV002795936] Chr1:216086761 [GRCh38]
Chr1:216260103 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12090G>A (p.Leu4030=) single nucleotide variant not provided [RCV002756818] Chr1:215680353 [GRCh38]
Chr1:215853695 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6749A>G (p.His2250Arg) single nucleotide variant not provided [RCV003078022] Chr1:215993076 [GRCh38]
Chr1:216166418 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2583T>C (p.Cys861=) single nucleotide variant not provided [RCV002825165] Chr1:216246811 [GRCh38]
Chr1:216420153 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11289C>T (p.Tyr3763=) single nucleotide variant not provided [RCV002871268] Chr1:215758695 [GRCh38]
Chr1:215932037 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln) single nucleotide variant Retinitis pigmentosa 39 [RCV003455700]|Usher syndrome type 2A [RCV003455699]|not provided [RCV003079690] Chr1:215900143 [GRCh38]
Chr1:216073485 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6713_6714delinsCA (p.Glu2238Ala) indel not provided [RCV002706285] Chr1:215993111..215993112 [GRCh38]
Chr1:216166453..216166454 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9912A>G (p.Leu3304=) single nucleotide variant not provided [RCV003002381] Chr1:215798953 [GRCh38]
Chr1:215972295 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10861A>T (p.Lys3621Ter) single nucleotide variant not provided [RCV002825246] Chr1:215779921 [GRCh38]
Chr1:215953263 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1210G>A (p.Glu404Lys) single nucleotide variant not provided [RCV003053373] Chr1:216324286 [GRCh38]
Chr1:216497628 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1840+7A>G single nucleotide variant not provided [RCV002866644] Chr1:216292168 [GRCh38]
Chr1:216465510 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14667G>T (p.Gly4889=) single nucleotide variant not provided [RCV002909660] Chr1:215647646 [GRCh38]
Chr1:215820988 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6152C>T (p.Thr2051Ile) single nucleotide variant not provided [RCV002735763] Chr1:216048545 [GRCh38]
Chr1:216221887 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12957T>A (p.Thr4319=) single nucleotide variant not provided [RCV002885365] Chr1:215674954 [GRCh38]
Chr1:215848296 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly) single nucleotide variant Inborn genetic diseases [RCV003079263]|Retinitis pigmentosa 39 [RCV003455693]|Usher syndrome type 2A [RCV003455692]|not provided [RCV003079262] Chr1:216217518 [GRCh38]
Chr1:216390860 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11549-13T>G single nucleotide variant not provided [RCV002621141] Chr1:215741550 [GRCh38]
Chr1:215914892 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.868T>G (p.Ser290Ala) single nucleotide variant Inborn genetic diseases [RCV002823518] Chr1:216325580 [GRCh38]
Chr1:216498922 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2888G>T (p.Cys963Phe) single nucleotide variant not provided [RCV002780337] Chr1:216232058 [GRCh38]
Chr1:216405400 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14323G>A (p.Ala4775Thr) single nucleotide variant not provided [RCV003077688] Chr1:215650612 [GRCh38]
Chr1:215823954 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8372T>C (p.Val2791Ala) single nucleotide variant not provided [RCV003100631] Chr1:215878950 [GRCh38]
Chr1:216052292 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3015del (p.Leu1006fs) deletion not provided [RCV002867835] Chr1:216217529 [GRCh38]
Chr1:216390871 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14573T>A (p.Val4858Asp) single nucleotide variant not provided [RCV002948678] Chr1:215648537 [GRCh38]
Chr1:215821879 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12171T>C (p.Thr4057=) single nucleotide variant not provided [RCV002999869] Chr1:215680272 [GRCh38]
Chr1:215853614 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5779T>G (p.Tyr1927Asp) single nucleotide variant not provided [RCV002999887] Chr1:216072967 [GRCh38]
Chr1:216246309 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13865G>A (p.Trp4622Ter) single nucleotide variant not provided [RCV002846509] Chr1:215671240 [GRCh38]
Chr1:215844582 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13752A>G (p.Thr4584=) single nucleotide variant not provided [RCV003037622] Chr1:215674159 [GRCh38]
Chr1:215847501 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13770T>C (p.Gly4590=) single nucleotide variant not provided [RCV003018705] Chr1:215674141 [GRCh38]
Chr1:215847483 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3752T>C (p.Met1251Thr) single nucleotide variant not provided [RCV003036998] Chr1:216199686 [GRCh38]
Chr1:216373028 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10585+6G>C single nucleotide variant not provided [RCV003035510] Chr1:215782732 [GRCh38]
Chr1:215956074 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9518_9519del (p.Cys3173fs) microsatellite not provided [RCV003035511] Chr1:215817048..215817049 [GRCh38]
Chr1:215990390..215990391 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9907G>A (p.Asp3303Asn) single nucleotide variant not provided [RCV002620196] Chr1:215798958 [GRCh38]
Chr1:215972300 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4739A>G (p.Tyr1580Cys) single nucleotide variant Inborn genetic diseases [RCV002845969] Chr1:216097102 [GRCh38]
Chr1:216270444 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1476G>A (p.Gln492=) single nucleotide variant not provided [RCV002590909] Chr1:216323548 [GRCh38]
Chr1:216496890 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val) single nucleotide variant Inborn genetic diseases [RCV003091058]|Retinitis pigmentosa 39 [RCV003455698]|Usher syndrome type 2A [RCV003455697]|not provided [RCV003079477] Chr1:216046503 [GRCh38]
Chr1:216219845 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5552delinsTT (p.Gln1851fs) indel Retinitis pigmentosa 39 [RCV003465881]|not provided [RCV002979479] Chr1:216078109 [GRCh38]
Chr1:216251451 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.11527A>C (p.Arg3843=) single nucleotide variant not provided [RCV003018753] Chr1:215743198 [GRCh38]
Chr1:215916540 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11011C>G (p.Pro3671Ala) single nucleotide variant not provided [RCV002659258] Chr1:215766717 [GRCh38]
Chr1:215940059 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13842C>T (p.Thr4614=) single nucleotide variant not provided [RCV003018770] Chr1:215671263 [GRCh38]
Chr1:215844605 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6495A>G (p.Gln2165=) single nucleotide variant not provided [RCV002659022] Chr1:215999049 [GRCh38]
Chr1:216172391 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11856G>T (p.Glu3952Asp) single nucleotide variant not provided [RCV002736623] Chr1:215728240 [GRCh38]
Chr1:215901582 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14699A>G (p.Gln4900Arg) single nucleotide variant Inborn genetic diseases [RCV002737003] Chr1:215647614 [GRCh38]
Chr1:215820956 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.945A>C (p.Ala315=) single nucleotide variant not provided [RCV002760683] Chr1:216325503 [GRCh38]
Chr1:216498845 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14909G>A (p.Gly4970Glu) single nucleotide variant not provided [RCV003077482] Chr1:215640617 [GRCh38]
Chr1:215813959 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10059G>C (p.Pro3353=) single nucleotide variant not provided [RCV002886289] Chr1:215790182 [GRCh38]
Chr1:215963524 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003465946]|Usher syndrome [RCV003388149]|Usher syndrome type 2A [RCV003455689]|not provided [RCV003079016] Chr1:215786726 [GRCh38]
Chr1:215960068 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys) single nucleotide variant Retinitis pigmentosa 39 [RCV003226567]|Usher syndrome type 2A [RCV003455690]|not provided [RCV003079018] Chr1:216048614 [GRCh38]
Chr1:216221956 [GRCh37]
Chr1:1q41
conflicting interpretations of pathogenicity|uncertain significance
NM_206933.4(USH2A):c.13355T>C (p.Leu4452Ser) single nucleotide variant not provided [RCV003054336] Chr1:215674556 [GRCh38]
Chr1:215847898 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13708C>T (p.Arg4570Cys) single nucleotide variant not provided [RCV003077841] Chr1:215674203 [GRCh38]
Chr1:215847545 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5541G>A (p.Leu1847=) single nucleotide variant not provided [RCV002866831] Chr1:216078120 [GRCh38]
Chr1:216251462 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9625G>T (p.Glu3209Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003465880]|not provided [RCV002979370] Chr1:215813850 [GRCh38]
Chr1:215987192 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.726A>G (p.Leu242=) single nucleotide variant not provided [RCV003020476] Chr1:216365011 [GRCh38]
Chr1:216538353 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11856G>C (p.Glu3952Asp) single nucleotide variant not provided [RCV002620295] Chr1:215728240 [GRCh38]
Chr1:215901582 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.650A>C (p.Gln217Pro) single nucleotide variant Inborn genetic diseases [RCV002822238] Chr1:216418515 [GRCh38]
Chr1:216591857 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2449T>C (p.Cys817Arg) single nucleotide variant not provided [RCV003053548] Chr1:216246945 [GRCh38]
Chr1:216420287 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8789A>T (p.Asn2930Ile) single nucleotide variant Inborn genetic diseases [RCV002925852] Chr1:215867063 [GRCh38]
Chr1:216040405 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs) duplication Usher syndrome [RCV002510425] Chr1:215900188..215900189 [GRCh38]
Chr1:216073530..216073531 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr) single nucleotide variant not specified [RCV002510426] Chr1:216073285 [GRCh38]
Chr1:216246627 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10162T>C (p.Ser3388Pro) single nucleotide variant Inborn genetic diseases [RCV002886868] Chr1:215790079 [GRCh38]
Chr1:215963421 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2499C>T (p.Asn833=) single nucleotide variant not provided [RCV002760599] Chr1:216246895 [GRCh38]
Chr1:216420237 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11266G>A (p.Gly3756Ser) single nucleotide variant not provided [RCV003078291] Chr1:215758718 [GRCh38]
Chr1:215932060 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8407del (p.Gly2804fs) deletion not provided [RCV003053861] Chr1:215878915 [GRCh38]
Chr1:216052257 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12693A>G (p.Gln4231=) single nucleotide variant not provided [RCV002976546] Chr1:215675218 [GRCh38]
Chr1:215848560 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5211C>T (p.Asn1737=) single nucleotide variant not provided [RCV003078446] Chr1:216083543 [GRCh38]
Chr1:216256885 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5167+17G>A single nucleotide variant not provided [RCV002866188] Chr1:216084681 [GRCh38]
Chr1:216258023 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12294G>A (p.Lys4098=) single nucleotide variant not provided [RCV002923021] Chr1:215680149 [GRCh38]
Chr1:215853491 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15126del (p.Trp5042fs) deletion Retinitis pigmentosa 39 [RCV003465986]|not provided [RCV002637364] Chr1:215634630 [GRCh38]
Chr1:215807972 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5850A>G (p.Thr1950=) single nucleotide variant not provided [RCV002569752] Chr1:216072896 [GRCh38]
Chr1:216246238 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7729A>G (p.Arg2577Gly) single nucleotide variant not provided [RCV003018568] Chr1:215888920 [GRCh38]
Chr1:216062262 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6087A>G (p.Ala2029=) single nucleotide variant not provided [RCV002866958] Chr1:216048610 [GRCh38]
Chr1:216221952 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.117G>C (p.Arg39Ser) single nucleotide variant not provided [RCV002659543] Chr1:216422220 [GRCh38]
Chr1:216595562 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7683G>A (p.Gly2561=) single nucleotide variant not provided [RCV002867971] Chr1:215888966 [GRCh38]
Chr1:216062308 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11564del (p.Ser3855fs) deletion Retinitis pigmentosa 39 [RCV003464605]|not provided [RCV002820387] Chr1:215741522 [GRCh38]
Chr1:215914864 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.10183-5C>T single nucleotide variant not provided [RCV002619163] Chr1:215786879 [GRCh38]
Chr1:215960221 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3347T>G (p.Leu1116Ter) single nucleotide variant not provided [RCV002948565] Chr1:216200091 [GRCh38]
Chr1:216373433 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15053-3C>T single nucleotide variant not provided [RCV002796445] Chr1:215634706 [GRCh38]
Chr1:215808048 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13784_13785del (p.Ile4595fs) microsatellite not provided [RCV002848170] Chr1:215674126..215674127 [GRCh38]
Chr1:215847468..215847469 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7451+12A>G single nucleotide variant not provided [RCV003018594] Chr1:215900743 [GRCh38]
Chr1:216074085 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5795T>C (p.Ile1932Thr) single nucleotide variant not provided [RCV002659385] Chr1:216072951 [GRCh38]
Chr1:216246293 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11204C>T (p.Thr3735Ile) single nucleotide variant not provided [RCV002592008] Chr1:215759687 [GRCh38]
Chr1:215933029 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15528T>C (p.Asp5176=) single nucleotide variant not provided [RCV002761230] Chr1:215625862 [GRCh38]
Chr1:215799204 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4452T>C (p.His1484=) single nucleotide variant not provided [RCV002820337] Chr1:216175427 [GRCh38]
Chr1:216348769 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11233T>C (p.Tyr3745His) single nucleotide variant not provided [RCV003077332] Chr1:215758751 [GRCh38]
Chr1:215932093 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4128C>G (p.Tyr1376Ter) single nucleotide variant not provided [RCV003100632] Chr1:216196676 [GRCh38]
Chr1:216370018 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14283C>T (p.Pro4761=) single nucleotide variant not provided [RCV002886231] Chr1:215650652 [GRCh38]
Chr1:215823994 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.30T>C (p.Ser10=) single nucleotide variant not provided [RCV003037466] Chr1:216422307 [GRCh38]
Chr1:216595649 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11715C>A (p.Arg3905=) single nucleotide variant not provided [RCV002622762] Chr1:215728381 [GRCh38]
Chr1:215901723 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2664T>C (p.Asn888=) single nucleotide variant not provided [RCV003054309] Chr1:216246730 [GRCh38]
Chr1:216420072 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644+5G>T single nucleotide variant not provided [RCV002848237] Chr1:216321878 [GRCh38]
Chr1:216495220 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8223+9C>T single nucleotide variant not provided [RCV003018374] Chr1:215888417 [GRCh38]
Chr1:216061759 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10437G>T (p.Trp3479Cys) single nucleotide variant not provided [RCV003078975] Chr1:215782886 [GRCh38]
Chr1:215956228 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14544G>T (p.Arg4848=) single nucleotide variant not provided [RCV002885117] Chr1:215648566 [GRCh38]
Chr1:215821908 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11548+6dup duplication not provided [RCV003038930] Chr1:215743170..215743171 [GRCh38]
Chr1:215916512..215916513 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8112T>C (p.Thr2704=) single nucleotide variant not provided [RCV002736141] Chr1:215888537 [GRCh38]
Chr1:216061879 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8559-4T>G single nucleotide variant not provided [RCV002847227] Chr1:215877884 [GRCh38]
Chr1:216051226 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12066G>T (p.Lys4022Asn) single nucleotide variant not provided [RCV003021218] Chr1:215728030 [GRCh38]
Chr1:215901372 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7248T>G (p.Asn2416Lys) single nucleotide variant not provided [RCV002824926] Chr1:215934668 [GRCh38]
Chr1:216108010 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1069A>C (p.Asn357His) single nucleotide variant not provided [RCV002619249] Chr1:216325379 [GRCh38]
Chr1:216498721 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14449G>A (p.Gly4817Arg) single nucleotide variant not provided [RCV002619250] Chr1:215648661 [GRCh38]
Chr1:215822003 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4108dup (p.Val1370fs) duplication not provided [RCV002866829] Chr1:216196695..216196696 [GRCh38]
Chr1:216370037..216370038 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9389G>T (p.Trp3130Leu) single nucleotide variant not provided [RCV003079017] Chr1:215817178 [GRCh38]
Chr1:215990520 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9192T>A (p.Thr3064=) single nucleotide variant not provided [RCV003020879] Chr1:215844360 [GRCh38]
Chr1:216017702 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5244A>G (p.Gln1748=) single nucleotide variant not provided [RCV002622396] Chr1:216083510 [GRCh38]
Chr1:216256852 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10192G>T (p.Glu3398Ter) single nucleotide variant not provided [RCV002870911] Chr1:215786865 [GRCh38]
Chr1:215960207 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14791+15C>T single nucleotide variant not provided [RCV002695686] Chr1:215647507 [GRCh38]
Chr1:215820849 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10341C>G (p.Ala3447=) single nucleotide variant not provided [RCV002735277] Chr1:215786716 [GRCh38]
Chr1:215960058 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1048G>A (p.Val350Ile) single nucleotide variant not provided [RCV002638097] Chr1:216325400 [GRCh38]
Chr1:216498742 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+2T>G single nucleotide variant not provided [RCV002847054] Chr1:215758593 [GRCh38]
Chr1:215931935 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10087C>T (p.Leu3363Phe) single nucleotide variant not provided [RCV002592282] Chr1:215790154 [GRCh38]
Chr1:215963496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5857+7A>T single nucleotide variant not provided [RCV002866864] Chr1:216072882 [GRCh38]
Chr1:216246224 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11846G>T (p.Gly3949Val) single nucleotide variant Inborn genetic diseases [RCV002783146] Chr1:215728250 [GRCh38]
Chr1:215901592 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5547T>C (p.Ser1849=) single nucleotide variant not provided [RCV003037775] Chr1:216078114 [GRCh38]
Chr1:216251456 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1152T>G (p.Tyr384Ter) single nucleotide variant not provided [RCV002622071] Chr1:216324344 [GRCh38]
Chr1:216497686 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13218G>C (p.Leu4406=) single nucleotide variant not provided [RCV002885861] Chr1:215674693 [GRCh38]
Chr1:215848035 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.386T>C (p.Phe129Ser) single nucleotide variant not provided [RCV003019117] Chr1:216421951 [GRCh38]
Chr1:216595293 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15520-10T>C single nucleotide variant not provided [RCV002705905] Chr1:215625880 [GRCh38]
Chr1:215799222 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6747C>T (p.Ala2249=) single nucleotide variant not provided [RCV003037798] Chr1:215993078 [GRCh38]
Chr1:216166420 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.886T>C (p.Leu296=) single nucleotide variant not provided [RCV002795167] Chr1:216325562 [GRCh38]
Chr1:216498904 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11232-11T>C single nucleotide variant not provided [RCV002912877] Chr1:215758763 [GRCh38]
Chr1:215932105 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10312G>T (p.Ala3438Ser) single nucleotide variant not provided [RCV002695193] Chr1:215786745 [GRCh38]
Chr1:215960087 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2924C>T (p.Ala975Val) single nucleotide variant not provided [RCV002913463] Chr1:216232022 [GRCh38]
Chr1:216405364 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13877_13880del (p.Gln4626fs) deletion not provided [RCV002999870] Chr1:215671225..215671228 [GRCh38]
Chr1:215844567..215844570 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13360G>A (p.Val4454Ile) single nucleotide variant not provided [RCV002736508] Chr1:215674551 [GRCh38]
Chr1:215847893 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14166del (p.Ser4723fs) deletion not provided [RCV002886406] Chr1:215650769 [GRCh38]
Chr1:215824111 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5421G>A (p.Lys1807=) single nucleotide variant not provided [RCV003020076] Chr1:216078240 [GRCh38]
Chr1:216251582 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12482C>T (p.Pro4161Leu) single nucleotide variant not provided [RCV003053977] Chr1:215675429 [GRCh38]
Chr1:215848771 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11711+7T>C single nucleotide variant not provided [RCV002760809] Chr1:215741368 [GRCh38]
Chr1:215914710 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5298+16T>G single nucleotide variant not provided [RCV003080299] Chr1:216083440 [GRCh38]
Chr1:216256782 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10411A>T (p.Thr3471Ser) single nucleotide variant not provided [RCV002622667] Chr1:215782912 [GRCh38]
Chr1:215956254 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3486dup (p.Asp1163fs) duplication not provided [RCV003054454] Chr1:216199951..216199952 [GRCh38]
Chr1:216373293..216373294 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15554A>G (p.Lys5185Arg) single nucleotide variant not provided [RCV002706180] Chr1:215625836 [GRCh38]
Chr1:215799178 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.654G>A (p.Val218=) single nucleotide variant not provided [RCV003077298] Chr1:216365083 [GRCh38]
Chr1:216538425 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3433C>T (p.Pro1145Ser) single nucleotide variant not provided [RCV002637109] Chr1:216200005 [GRCh38]
Chr1:216373347 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10135T>C (p.Leu3379=) single nucleotide variant not provided [RCV002867519] Chr1:215790106 [GRCh38]
Chr1:215963448 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14217del (p.Ala4740fs) deletion not provided [RCV003020097] Chr1:215650718 [GRCh38]
Chr1:215824060 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter) single nucleotide variant not provided [RCV003038682] Chr1:215674520 [GRCh38]
Chr1:215847862 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1896T>G (p.Pro632=) single nucleotide variant not provided [RCV002923554] Chr1:216289355 [GRCh38]
Chr1:216462697 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-13_4252-10del deletion not provided [RCV003037630] Chr1:216190377..216190380 [GRCh38]
Chr1:216363719..216363722 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13925_13926dup (p.Gln4643fs) duplication not provided [RCV002848013] Chr1:215671178..215671179 [GRCh38]
Chr1:215844520..215844521 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4976G>A (p.Arg1659Lys) single nucleotide variant not provided [RCV003077407] Chr1:216086730 [GRCh38]
Chr1:216260072 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1696C>A (p.Gln566Lys) single nucleotide variant not provided [RCV002619227] Chr1:216292319 [GRCh38]
Chr1:216465661 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15223_15224del (p.Glu5075fs) microsatellite not provided [RCV003054278] Chr1:215634532..215634533 [GRCh38]
Chr1:215807874..215807875 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14152G>T (p.Ala4718Ser) single nucleotide variant not provided [RCV002761619] Chr1:215650783 [GRCh38]
Chr1:215824125 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6958-16del deletion not provided [RCV003002825] Chr1:215965495 [GRCh38]
Chr1:216138837 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6001C>G (p.Arg2001Gly) single nucleotide variant not provided [RCV002796101] Chr1:216070149 [GRCh38]
Chr1:216243491 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4251+20del deletion not provided [RCV003078638] Chr1:216196533 [GRCh38]
Chr1:216369875 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13006T>C (p.Cys4336Arg) single nucleotide variant not provided [RCV002736305] Chr1:215674905 [GRCh38]
Chr1:215848247 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8199A>G (p.Thr2733=) single nucleotide variant not provided [RCV002889133] Chr1:215888450 [GRCh38]
Chr1:216061792 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7171G>A (p.Glu2391Lys) single nucleotide variant not provided [RCV002740014] Chr1:215934745 [GRCh38]
Chr1:216108087 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10523C>T (p.Thr3508Ile) single nucleotide variant not provided [RCV002976021] Chr1:215782800 [GRCh38]
Chr1:215956142 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11766C>T (p.Ala3922=) single nucleotide variant not provided [RCV003019423] Chr1:215728330 [GRCh38]
Chr1:215901672 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9106_9110del (p.Val3036fs) deletion Retinitis pigmentosa 39 [RCV003464629]|not provided [RCV002868052] Chr1:215844442..215844446 [GRCh38]
Chr1:216017784..216017788 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.5778A>G (p.Glu1926=) single nucleotide variant not provided [RCV003018847] Chr1:216072968 [GRCh38]
Chr1:216246310 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12105A>G (p.Pro4035=) single nucleotide variant not provided [RCV003020393] Chr1:215680338 [GRCh38]
Chr1:215853680 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8448T>G (p.Thr2816=) single nucleotide variant not provided [RCV002706272] Chr1:215878874 [GRCh38]
Chr1:216052216 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1334C>T (p.Thr445Ile) single nucleotide variant not provided [RCV002706460] Chr1:216323690 [GRCh38]
Chr1:216497032 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9275T>C (p.Ile3092Thr) single nucleotide variant Inborn genetic diseases [RCV002799377] Chr1:215838087 [GRCh38]
Chr1:216011429 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15022T>C (p.Leu5008=) single nucleotide variant not provided [RCV003038908] Chr1:215639185 [GRCh38]
Chr1:215812527 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11978_11979delinsTT (p.Gly3993Val) indel not provided [RCV002820606] Chr1:215728117..215728118 [GRCh38]
Chr1:215901459..215901460 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8845+12T>A single nucleotide variant not provided [RCV002909647] Chr1:215866995 [GRCh38]
Chr1:216040337 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8905T>A (p.Ser2969Thr) single nucleotide variant Inborn genetic diseases [RCV002692571] Chr1:215845974 [GRCh38]
Chr1:216019316 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5857+14T>C single nucleotide variant not provided [RCV002620935] Chr1:216072875 [GRCh38]
Chr1:216246217 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13936C>A (p.Pro4646Thr) single nucleotide variant not provided [RCV003053087] Chr1:215671169 [GRCh38]
Chr1:215844511 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1075T>C (p.Phe359Leu) single nucleotide variant not provided [RCV003053877] Chr1:216325373 [GRCh38]
Chr1:216498715 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8576G>C (p.Arg2859Pro) single nucleotide variant Usher syndrome [RCV003389512]|not provided [RCV002760483] Chr1:215877863 [GRCh38]
Chr1:216051205 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.1055C>G (p.Thr352Ser) single nucleotide variant not provided [RCV003038598] Chr1:216325393 [GRCh38]
Chr1:216498735 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11488_11492del (p.Leu3830fs) deletion not provided [RCV002848458] Chr1:215743233..215743237 [GRCh38]
Chr1:215916575..215916579 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.454G>C (p.Val152Leu) single nucleotide variant not provided [RCV003018355] Chr1:216421883 [GRCh38]
Chr1:216595225 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2127C>T (p.His709=) single nucleotide variant not provided [RCV002797116] Chr1:216250943 [GRCh38]
Chr1:216424285 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8093A>T (p.Tyr2698Phe) single nucleotide variant not provided [RCV002706093] Chr1:215888556 [GRCh38]
Chr1:216061898 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14941del (p.Leu4981fs) deletion not provided [RCV002847915] Chr1:215640585 [GRCh38]
Chr1:215813927 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6135T>C (p.His2045=) single nucleotide variant not provided [RCV003021075] Chr1:216048562 [GRCh38]
Chr1:216221904 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10939+12A>G single nucleotide variant not provided [RCV002796360] Chr1:215779831 [GRCh38]
Chr1:215953173 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9914A>C (p.Glu3305Ala) single nucleotide variant not provided [RCV002591232] Chr1:215798951 [GRCh38]
Chr1:215972293 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10091T>C (p.Ile3364Thr) single nucleotide variant not provided [RCV002706347] Chr1:215790150 [GRCh38]
Chr1:215963492 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.203A>T (p.His68Leu) single nucleotide variant not provided [RCV002785236] Chr1:216422134 [GRCh38]
Chr1:216595476 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13529C>A (p.Thr4510Asn) single nucleotide variant Inborn genetic diseases [RCV002799780] Chr1:215674382 [GRCh38]
Chr1:215847724 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7120+11T>C single nucleotide variant not provided [RCV002735574] Chr1:215965306 [GRCh38]
Chr1:216138648 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12214T>C (p.Phe4072Leu) single nucleotide variant Inborn genetic diseases [RCV002821694] Chr1:215680229 [GRCh38]
Chr1:215853571 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9093C>T (p.Ile3031=) single nucleotide variant not provided [RCV002886063] Chr1:215844459 [GRCh38]
Chr1:216017801 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1963T>C (p.Cys655Arg) single nucleotide variant not provided [RCV003079019] Chr1:216289288 [GRCh38]
Chr1:216462630 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2937G>A (p.Gly979=) single nucleotide variant not provided [RCV002638789] Chr1:216232009 [GRCh38]
Chr1:216405351 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6072C>T (p.Pro2024=) single nucleotide variant not provided [RCV002662342] Chr1:216048625 [GRCh38]
Chr1:216221967 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3389T>G (p.Val1130Gly) single nucleotide variant not provided [RCV002620754] Chr1:216200049 [GRCh38]
Chr1:216373391 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9292A>T (p.Ser3098Cys) single nucleotide variant not provided [RCV002979853] Chr1:215838070 [GRCh38]
Chr1:216011412 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1106T>G (p.Val369Gly) single nucleotide variant not provided [RCV003038811] Chr1:216325342 [GRCh38]
Chr1:216498684 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5784G>C (p.Leu1928=) single nucleotide variant not provided [RCV003017787] Chr1:216072962 [GRCh38]
Chr1:216246304 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10388-4C>G single nucleotide variant not provided [RCV002909169] Chr1:215782939 [GRCh38]
Chr1:215956281 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn) single nucleotide variant Retinitis pigmentosa 39 [RCV003455722]|Usher syndrome type 2A [RCV003455721]|not provided [RCV002591735] Chr1:215629026 [GRCh38]
Chr1:215802368 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2723T>C (p.Leu908Ser) single nucleotide variant not provided [RCV002760781] Chr1:216246671 [GRCh38]
Chr1:216420013 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7805C>G (p.Ala2602Gly) single nucleotide variant not provided [RCV002761194] Chr1:215888844 [GRCh38]
Chr1:216062186 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15496A>T (p.Ile5166Phe) single nucleotide variant not provided [RCV002706552] Chr1:215628837 [GRCh38]
Chr1:215802179 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4830A>T (p.Ile1610=) single nucleotide variant not provided [RCV002913651] Chr1:216089068 [GRCh38]
Chr1:216262410 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10235A>T (p.His3412Leu) single nucleotide variant not provided [RCV002735056] Chr1:215786822 [GRCh38]
Chr1:215960164 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1468C>T (p.His490Tyr) single nucleotide variant not specified [RCV002510466] Chr1:216323556 [GRCh38]
Chr1:216496898 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2840G>A (p.Gly947Asp) single nucleotide variant not provided [RCV002620800] Chr1:216232106 [GRCh38]
Chr1:216405448 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2462T>C (p.Val821Ala) single nucleotide variant not provided [RCV002785284] Chr1:216246932 [GRCh38]
Chr1:216420274 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12255A>G (p.Leu4085=) single nucleotide variant not provided [RCV002824999] Chr1:215680188 [GRCh38]
Chr1:215853530 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10689T>C (p.Tyr3563=) single nucleotide variant not provided [RCV002637063] Chr1:215782093 [GRCh38]
Chr1:215955435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1329-9C>T single nucleotide variant not provided [RCV002791328] Chr1:216323704 [GRCh38]
Chr1:216497046 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3737T>G (p.Leu1246Arg) single nucleotide variant not provided [RCV002626578] Chr1:216199701 [GRCh38]
Chr1:216373043 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9373T>C (p.Ser3125Pro) single nucleotide variant not provided [RCV002932613] Chr1:215817194 [GRCh38]
Chr1:215990536 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10509T>A (p.Ser3503Arg) single nucleotide variant not provided [RCV003084660] Chr1:215782814 [GRCh38]
Chr1:215956156 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9371+10T>G single nucleotide variant not provided [RCV003059196] Chr1:215837981 [GRCh38]
Chr1:216011323 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.651+18T>A single nucleotide variant not provided [RCV002786363] Chr1:216418496 [GRCh38]
Chr1:216591838 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8880C>T (p.Tyr2960=) single nucleotide variant not provided [RCV003057521] Chr1:215845999 [GRCh38]
Chr1:216019341 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8034T>C (p.Ser2678=) single nucleotide variant not provided [RCV003042894] Chr1:215888615 [GRCh38]
Chr1:216061957 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.758C>T (p.Thr253Ile) single nucleotide variant not provided [RCV003043439] Chr1:216364979 [GRCh38]
Chr1:216538321 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2942G>A (p.Arg981His) single nucleotide variant Inborn genetic diseases [RCV002985678]|Retinitis pigmentosa 39 [RCV003455641]|Usher syndrome type 2A [RCV003455640]|not provided [RCV002985679] Chr1:216232004 [GRCh38]
Chr1:216405346 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5337T>C (p.Asn1779=) single nucleotide variant not provided [RCV002829388] Chr1:216078324 [GRCh38]
Chr1:216251666 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11549-5T>C single nucleotide variant not provided [RCV002575255] Chr1:215741542 [GRCh38]
Chr1:215914884 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11048-9T>C single nucleotide variant not provided [RCV003085223] Chr1:215759852 [GRCh38]
Chr1:215933194 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14261A>C (p.Asn4754Thr) single nucleotide variant Inborn genetic diseases [RCV002712519] Chr1:215650674 [GRCh38]
Chr1:215824016 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6859_6860dup (p.Glu2288fs) duplication not provided [RCV003057539] Chr1:215970721..215970722 [GRCh38]
Chr1:216144063..216144064 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4988-14A>G single nucleotide variant not provided [RCV002711274] Chr1:216084891 [GRCh38]
Chr1:216258233 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6078A>G (p.Lys2026=) single nucleotide variant not provided [RCV003026192] Chr1:216048619 [GRCh38]
Chr1:216221961 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11394C>T (p.Ile3798=) single nucleotide variant not provided [RCV003025586] Chr1:215743331 [GRCh38]
Chr1:215916673 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11047+16C>A single nucleotide variant not provided [RCV002597163] Chr1:215766665 [GRCh38]
Chr1:215940007 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9371+19G>T single nucleotide variant not provided [RCV002875661] Chr1:215837972 [GRCh38]
Chr1:216011314 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8558+10G>A single nucleotide variant not provided [RCV003026225] Chr1:215878754 [GRCh38]
Chr1:216052096 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10464del (p.Ala3489fs) deletion not provided [RCV002932756] Chr1:215782859 [GRCh38]
Chr1:215956201 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10061T>A (p.Val3354Glu) single nucleotide variant not provided [RCV002918874] Chr1:215790180 [GRCh38]
Chr1:215963522 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9204G>T (p.Val3068=) single nucleotide variant not provided [RCV003043464] Chr1:215844348 [GRCh38]
Chr1:216017690 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4803A>G (p.Gln1601=) single nucleotide variant not provided [RCV002852978] Chr1:216089095 [GRCh38]
Chr1:216262437 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6806-31_6806-20del deletion not provided [RCV002627290] Chr1:215970796..215970807 [GRCh38]
Chr1:216144138..216144149 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9371+4C>T single nucleotide variant not provided [RCV002576450] Chr1:215837987 [GRCh38]
Chr1:216011329 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9927A>T (p.Gly3309=) single nucleotide variant not provided [RCV003043690] Chr1:215798938 [GRCh38]
Chr1:215972280 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10076G>A (p.Cys3359Tyr) single nucleotide variant not provided [RCV002645744] Chr1:215790165 [GRCh38]
Chr1:215963507 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8558+7G>A single nucleotide variant not provided [RCV002851037] Chr1:215878757 [GRCh38]
Chr1:216052099 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2013G>A (p.Arg671=) single nucleotide variant not provided [RCV002575420] Chr1:216251057 [GRCh38]
Chr1:216424399 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13473A>G (p.Glu4491=) single nucleotide variant not provided [RCV002876320] Chr1:215674438 [GRCh38]
Chr1:215847780 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.261T>C (p.Asp87=) single nucleotide variant not provided [RCV002667121] Chr1:216422076 [GRCh38]
Chr1:216595418 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3882T>C (p.Ser1294=) single nucleotide variant not provided [RCV002875780] Chr1:216198514 [GRCh38]
Chr1:216371856 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15268A>C (p.Asn5090His) single nucleotide variant not provided [RCV002642251] Chr1:215634488 [GRCh38]
Chr1:215807830 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5298+1G>T single nucleotide variant not provided [RCV003057225] Chr1:216083455 [GRCh38]
Chr1:216256797 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9372-5T>C single nucleotide variant not provided [RCV002711394] Chr1:215817200 [GRCh38]
Chr1:215990542 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15439C>T (p.Gln5147Ter) single nucleotide variant not provided [RCV002894102] Chr1:215628894 [GRCh38]
Chr1:215802236 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.990dup (p.Arg331Ter) duplication not provided [RCV002875791] Chr1:216325457..216325458 [GRCh38]
Chr1:216498799..216498800 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4627+14A>G single nucleotide variant not provided [RCV003058854] Chr1:216175238 [GRCh38]
Chr1:216348580 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6930G>C (p.Thr2310=) single nucleotide variant not provided [RCV002894098] Chr1:215970652 [GRCh38]
Chr1:216143994 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9216T>C (p.Phe3072=) single nucleotide variant not provided [RCV002623723] Chr1:215844336 [GRCh38]
Chr1:216017678 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8919A>C (p.Leu2973=) single nucleotide variant not provided [RCV002872530] Chr1:215845960 [GRCh38]
Chr1:216019302 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.122A>T (p.Glu41Val) single nucleotide variant not provided [RCV002801521] Chr1:216422215 [GRCh38]
Chr1:216595557 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7395C>A (p.Gly2465=) single nucleotide variant not provided [RCV002700341] Chr1:215900811 [GRCh38]
Chr1:216074153 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3317-10T>C single nucleotide variant not provided [RCV003042590] Chr1:216200131 [GRCh38]
Chr1:216373473 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6895_6896delinsGA (p.Trp2299Glu) indel not provided [RCV003058799] Chr1:215970686..215970687 [GRCh38]
Chr1:216144028..216144029 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.354T>A (p.Pro118=) single nucleotide variant not provided [RCV002853106] Chr1:216421983 [GRCh38]
Chr1:216595325 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1160T>C (p.Ile387Thr) single nucleotide variant not provided [RCV003059473] Chr1:216324336 [GRCh38]
Chr1:216497678 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9739+15C>T single nucleotide variant not provided [RCV002805836] Chr1:215813721 [GRCh38]
Chr1:215987063 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10287A>G (p.Arg3429=) single nucleotide variant not provided [RCV003024051] Chr1:215786770 [GRCh38]
Chr1:215960112 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-13A>G single nucleotide variant not provided [RCV003024063] Chr1:216247239 [GRCh38]
Chr1:216420581 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9570+1_9570+5del deletion not provided [RCV003057312] Chr1:215816992..215816996 [GRCh38]
Chr1:215990334..215990338 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6485+10A>T single nucleotide variant not provided [RCV003005939] Chr1:216000393 [GRCh38]
Chr1:216173735 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7174G>A (p.Glu2392Lys) single nucleotide variant not provided [RCV002829054] Chr1:215934742 [GRCh38]
Chr1:216108084 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15604C>T (p.Leu5202=) single nucleotide variant not provided [RCV002596954] Chr1:215625786 [GRCh38]
Chr1:215799128 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5853A>C (p.Gly1951=) single nucleotide variant not provided [RCV002875905] Chr1:216072893 [GRCh38]
Chr1:216246235 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6958-9T>C single nucleotide variant not provided [RCV002853247] Chr1:215965488 [GRCh38]
Chr1:216138830 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11682T>C (p.Asn3894=) single nucleotide variant not provided [RCV002894715] Chr1:215741404 [GRCh38]
Chr1:215914746 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8505A>T (p.Ser2835=) single nucleotide variant not provided [RCV002894735] Chr1:215878817 [GRCh38]
Chr1:216052159 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4790A>T (p.Asp1597Val) single nucleotide variant not provided [RCV002786690] Chr1:216089108 [GRCh38]
Chr1:216262450 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9740-9A>C single nucleotide variant not provided [RCV002801591] Chr1:215799134 [GRCh38]
Chr1:215972476 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser) single nucleotide variant Inborn genetic diseases [RCV002595360]|Retinitis pigmentosa 39 [RCV003455720]|Usher syndrome type 2A [RCV003455719]|not provided [RCV002595359] Chr1:216083481 [GRCh38]
Chr1:216256823 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10182+6T>G single nucleotide variant not provided [RCV002791250] Chr1:215790053 [GRCh38]
Chr1:215963395 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12540C>T (p.Asn4180=) single nucleotide variant not provided [RCV002575088] Chr1:215675371 [GRCh38]
Chr1:215848713 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8583C>T (p.Ile2861=) single nucleotide variant not provided [RCV002625910] Chr1:215877856 [GRCh38]
Chr1:216051198 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13589C>T (p.Ser4530Leu) single nucleotide variant not provided [RCV002958164] Chr1:215674322 [GRCh38]
Chr1:215847664 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10941T>A (p.Gly3647=) single nucleotide variant not provided [RCV002958739] Chr1:215766787 [GRCh38]
Chr1:215940129 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4348G>T (p.Val1450Phe) single nucleotide variant not provided [RCV002914635] Chr1:216190271 [GRCh38]
Chr1:216363613 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8190_8193dup (p.Val2732fs) microsatellite not provided [RCV003057432] Chr1:215888455..215888456 [GRCh38]
Chr1:216061797..216061798 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4804T>C (p.Tyr1602His) single nucleotide variant not provided [RCV002701079] Chr1:216089094 [GRCh38]
Chr1:216262436 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11232-5T>A single nucleotide variant not provided [RCV002894847] Chr1:215758757 [GRCh38]
Chr1:215932099 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10511C>T (p.Pro3504Leu) single nucleotide variant not provided [RCV002576303] Chr1:215782812 [GRCh38]
Chr1:215956154 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12295-10C>G single nucleotide variant not provided [RCV002852832] Chr1:215675626 [GRCh38]
Chr1:215848968 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13317A>G (p.Thr4439=) single nucleotide variant not provided [RCV002805695] Chr1:215674594 [GRCh38]
Chr1:215847936 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14905G>A (p.Gly4969Arg) single nucleotide variant not provided [RCV002664354] Chr1:215640621 [GRCh38]
Chr1:215813963 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10494G>T (p.Val3498=) single nucleotide variant not provided [RCV002876530] Chr1:215782829 [GRCh38]
Chr1:215956171 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe) single nucleotide variant Inborn genetic diseases [RCV002894402]|Retinitis pigmentosa 39 [RCV003455594]|Usher syndrome type 2A [RCV003455593]|not provided [RCV002877582] Chr1:216421927 [GRCh38]
Chr1:216595269 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6579C>G (p.Ile2193Met) single nucleotide variant not provided [RCV003082907] Chr1:215998965 [GRCh38]
Chr1:216172307 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4348G>A (p.Val1450Ile) single nucleotide variant not provided [RCV002917305] Chr1:216190271 [GRCh38]
Chr1:216363613 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13120G>A (p.Val4374Ile) single nucleotide variant Inborn genetic diseases [RCV002763029] Chr1:215674791 [GRCh38]
Chr1:215848133 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6805+19C>A single nucleotide variant not provided [RCV002829114] Chr1:215993001 [GRCh38]
Chr1:216166343 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14162C>T (p.Ala4721Val) single nucleotide variant not provided [RCV003081909] Chr1:215650773 [GRCh38]
Chr1:215824115 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11793C>G (p.Thr3931=) single nucleotide variant not provided [RCV002800928] Chr1:215728303 [GRCh38]
Chr1:215901645 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8559-10T>C single nucleotide variant not provided [RCV003040268] Chr1:215877890 [GRCh38]
Chr1:216051232 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15252G>A (p.Lys5084=) single nucleotide variant not provided [RCV002801833] Chr1:215634504 [GRCh38]
Chr1:215807846 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5270A>C (p.Tyr1757Ser) single nucleotide variant not provided [RCV002851416] Chr1:216083484 [GRCh38]
Chr1:216256826 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15237G>C (p.Leu5079Phe) single nucleotide variant not provided [RCV003058162] Chr1:215634519 [GRCh38]
Chr1:215807861 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6729C>A (p.Gly2243=) single nucleotide variant not provided [RCV002786270] Chr1:215993096 [GRCh38]
Chr1:216166438 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+7G>A single nucleotide variant not provided [RCV002871846] Chr1:215798900 [GRCh38]
Chr1:215972242 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13483C>G (p.Arg4495Gly) single nucleotide variant not provided [RCV003057406] Chr1:215674428 [GRCh38]
Chr1:215847770 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11004A>G (p.Ser3668=) single nucleotide variant not provided [RCV003023711] Chr1:215766724 [GRCh38]
Chr1:215940066 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3159T>A (p.Thr1053=) single nucleotide variant not provided [RCV002643905] Chr1:216207430 [GRCh38]
Chr1:216380772 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1059A>T (p.Ser353=) single nucleotide variant not provided [RCV002850955] Chr1:216325389 [GRCh38]
Chr1:216498731 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10752T>C (p.Ala3584=) single nucleotide variant not provided [RCV003005599] Chr1:215780030 [GRCh38]
Chr1:215953372 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14533G>A (p.Ala4845Thr) single nucleotide variant Inborn genetic diseases [RCV002984112] Chr1:215648577 [GRCh38]
Chr1:215821919 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10962C>T (p.Tyr3654=) single nucleotide variant not provided [RCV002953996] Chr1:215766766 [GRCh38]
Chr1:215940108 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13198G>A (p.Ala4400Thr) single nucleotide variant Inborn genetic diseases [RCV002827108] Chr1:215674713 [GRCh38]
Chr1:215848055 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4809T>C (p.Ser1603=) single nucleotide variant not provided [RCV002890222] Chr1:216089089 [GRCh38]
Chr1:216262431 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5268T>A (p.Val1756=) single nucleotide variant not provided [RCV002802003] Chr1:216083486 [GRCh38]
Chr1:216256828 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.723T>G (p.Thr241=) single nucleotide variant not provided [RCV002851885] Chr1:216365014 [GRCh38]
Chr1:216538356 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14968+1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003459717]|not provided [RCV003057724] Chr1:215640557 [GRCh38]
Chr1:215813899 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14322C>A (p.Ser4774Arg) single nucleotide variant Inborn genetic diseases [RCV002826257] Chr1:215650613 [GRCh38]
Chr1:215823955 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7121-5A>G single nucleotide variant not provided [RCV002572852] Chr1:215934800 [GRCh38]
Chr1:216108142 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3017T>C (p.Leu1006Pro) single nucleotide variant not provided [RCV002642787] Chr1:216217527 [GRCh38]
Chr1:216390869 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1347T>C (p.Arg449=) single nucleotide variant not provided [RCV003041557] Chr1:216323677 [GRCh38]
Chr1:216497019 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6576C>T (p.Val2192=) single nucleotide variant not provided [RCV003006521] Chr1:215998968 [GRCh38]
Chr1:216172310 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8978A>G (p.Tyr2993Cys) single nucleotide variant not provided [RCV002574999] Chr1:215845901 [GRCh38]
Chr1:216019243 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13797G>A (p.Leu4599=) single nucleotide variant not provided [RCV002871781] Chr1:215674114 [GRCh38]
Chr1:215847456 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2847G>A (p.Leu949=) single nucleotide variant not provided [RCV002801020] Chr1:216232099 [GRCh38]
Chr1:216405441 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11936A>G (p.His3979Arg) single nucleotide variant not provided [RCV003040583] Chr1:215728160 [GRCh38]
Chr1:215901502 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13812-7C>G single nucleotide variant not provided [RCV002740877] Chr1:215671300 [GRCh38]
Chr1:215844642 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11947T>C (p.Leu3983=) single nucleotide variant not provided [RCV002643095] Chr1:215728149 [GRCh38]
Chr1:215901491 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1335T>C (p.Thr445=) single nucleotide variant not provided [RCV002765829] Chr1:216323689 [GRCh38]
Chr1:216497031 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14385T>G (p.Leu4795=) single nucleotide variant not provided [RCV002765830] Chr1:215648725 [GRCh38]
Chr1:215822067 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12884T>A (p.Ile4295Asn) single nucleotide variant not provided [RCV003024504] Chr1:215675027 [GRCh38]
Chr1:215848369 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1602T>C (p.Tyr534=) single nucleotide variant not provided [RCV002741212] Chr1:216321925 [GRCh38]
Chr1:216495267 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8559-12C>G single nucleotide variant not provided [RCV002573090] Chr1:215877892 [GRCh38]
Chr1:216051234 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11709C>T (p.Tyr3903=) single nucleotide variant not provided [RCV002711006] Chr1:215741377 [GRCh38]
Chr1:215914719 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1415_1494delinsG (p.Asn472fs) indel not provided [RCV002917369] Chr1:216323530..216323609 [GRCh38]
Chr1:216496872..216496951 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8554T>C (p.Leu2852=) single nucleotide variant not provided [RCV003040082] Chr1:215878768 [GRCh38]
Chr1:216052110 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=) single nucleotide variant Retinitis pigmentosa 39 [RCV003455674]|Usher syndrome type 2A [RCV003455673]|not provided [RCV003041281] Chr1:216199970 [GRCh38]
Chr1:216373312 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8633A>G (p.Asn2878Ser) single nucleotide variant not provided [RCV002624980] Chr1:215877806 [GRCh38]
Chr1:216051148 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10245G>A (p.Arg3415=) single nucleotide variant not provided [RCV002700039] Chr1:215786812 [GRCh38]
Chr1:215960154 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys) single nucleotide variant Inborn genetic diseases [RCV003349031]|Retinitis pigmentosa 39 [RCV003455715]|Usher syndrome type 2A [RCV003455714]|not provided [RCV002574660] Chr1:215639206 [GRCh38]
Chr1:215812548 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5998C>T (p.Pro2000Ser) single nucleotide variant not provided [RCV002871845] Chr1:216070152 [GRCh38]
Chr1:216243494 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6726A>G (p.Glu2242=) single nucleotide variant not provided [RCV002852721] Chr1:215993099 [GRCh38]
Chr1:216166441 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11683G>A (p.Gly3895Arg) single nucleotide variant not provided [RCV002594407] Chr1:215741403 [GRCh38]
Chr1:215914745 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11231+8A>G single nucleotide variant not provided [RCV002710128] Chr1:215759652 [GRCh38]
Chr1:215932994 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5122G>A (p.Gly1708Arg) single nucleotide variant not provided [RCV002664210] Chr1:216084743 [GRCh38]
Chr1:216258085 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10651T>C (p.Phe3551Leu) single nucleotide variant not provided [RCV002594889] Chr1:215782131 [GRCh38]
Chr1:215955473 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8851C>A (p.Gln2951Lys) single nucleotide variant not provided [RCV002710746] Chr1:215846028 [GRCh38]
Chr1:216019370 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15118G>A (p.Glu5040Lys) single nucleotide variant not provided [RCV002786723] Chr1:215634638 [GRCh38]
Chr1:215807980 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3680del (p.Gly1227fs) deletion not provided [RCV002664214] Chr1:216199758 [GRCh38]
Chr1:216373100 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1135C>T (p.Gln379Ter) single nucleotide variant not provided [RCV002664218] Chr1:216325313 [GRCh38]
Chr1:216498655 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4288A>G (p.Thr1430Ala) single nucleotide variant not provided [RCV003083216] Chr1:216190331 [GRCh38]
Chr1:216363673 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14344-20A>G single nucleotide variant not provided [RCV002595497] Chr1:215648786 [GRCh38]
Chr1:215822128 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466008]|Usher syndrome type 2A [RCV002789978] Chr1:215965390 [GRCh38]
Chr1:216138732 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3840G>A (p.Met1280Ile) single nucleotide variant not provided [RCV003022187] Chr1:216198556 [GRCh38]
Chr1:216371898 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3454_3455del (p.Leu1152fs) deletion not provided [RCV003039948] Chr1:216199983..216199984 [GRCh38]
Chr1:216373325..216373326 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5845A>G (p.Thr1949Ala) single nucleotide variant not provided [RCV002663963] Chr1:216072901 [GRCh38]
Chr1:216246243 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2100G>A (p.Gly700=) single nucleotide variant not provided [RCV002572782] Chr1:216250970 [GRCh38]
Chr1:216424312 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5529A>G (p.Pro1843=) single nucleotide variant not provided [RCV002642716] Chr1:216078132 [GRCh38]
Chr1:216251474 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11157T>C (p.Arg3719=) single nucleotide variant not provided [RCV003023662] Chr1:215759734 [GRCh38]
Chr1:215933076 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8689A>G (p.Thr2897Ala) single nucleotide variant not provided [RCV003083848] Chr1:215867163 [GRCh38]
Chr1:216040505 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12016C>T (p.Pro4006Ser) single nucleotide variant not provided [RCV002595835] Chr1:215728080 [GRCh38]
Chr1:215901422 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6958-3C>T single nucleotide variant not provided [RCV003082129] Chr1:215965482 [GRCh38]
Chr1:216138824 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8009C>T (p.Thr2670Ile) single nucleotide variant not provided [RCV003056631] Chr1:215888640 [GRCh38]
Chr1:216061982 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12154del (p.Ile4052fs) deletion not provided [RCV003040885] Chr1:215680289 [GRCh38]
Chr1:215853631 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.802G>C (p.Gly268Arg) single nucleotide variant not provided [RCV003005847] Chr1:216327637 [GRCh38]
Chr1:216500979 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11176C>T (p.Leu3726=) single nucleotide variant not provided [RCV003022215] Chr1:215759715 [GRCh38]
Chr1:215933057 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3012T>C (p.Cys1004=) single nucleotide variant not provided [RCV003056635] Chr1:216217532 [GRCh38]
Chr1:216390874 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10883T>C (p.Val3628Ala) single nucleotide variant not provided [RCV002663995] Chr1:215779899 [GRCh38]
Chr1:215953241 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10939+5G>T single nucleotide variant not provided [RCV002623950] Chr1:215779838 [GRCh38]
Chr1:215953180 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1820A>T (p.Asp607Val) single nucleotide variant Inborn genetic diseases [RCV002827022] Chr1:216292195 [GRCh38]
Chr1:216465537 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.757A>G (p.Thr253Ala) single nucleotide variant not provided [RCV002958210] Chr1:216364980 [GRCh38]
Chr1:216538322 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13737C>A (p.Ile4579=) single nucleotide variant not provided [RCV002593561] Chr1:215674174 [GRCh38]
Chr1:215847516 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12875A>C (p.Asn4292Thr) single nucleotide variant not provided [RCV002851013] Chr1:215675036 [GRCh38]
Chr1:215848378 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9888C>T (p.Gly3296=) single nucleotide variant not provided [RCV003005603] Chr1:215798977 [GRCh38]
Chr1:215972319 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3553T>C (p.Ser1185Pro) single nucleotide variant not provided [RCV002829176] Chr1:216199885 [GRCh38]
Chr1:216373227 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9181C>A (p.Leu3061Ile) single nucleotide variant Inborn genetic diseases [RCV002916145] Chr1:215844371 [GRCh38]
Chr1:216017713 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14934C>T (p.Asp4978=) single nucleotide variant not provided [RCV002643615] Chr1:215640592 [GRCh38]
Chr1:215813934 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3809del (p.Asn1270fs) deletion not provided [RCV003024443] Chr1:216199629 [GRCh38]
Chr1:216372971 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3736C>G (p.Leu1246Val) single nucleotide variant not provided [RCV002643894] Chr1:216199702 [GRCh38]
Chr1:216373044 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15338_15339del (p.Val5113fs) microsatellite Retinitis pigmentosa 39 [RCV003465830]|not provided [RCV002805312] Chr1:215628994..215628995 [GRCh38]
Chr1:215802336..215802337 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7622T>C (p.Leu2541Pro) single nucleotide variant not provided [RCV002982333] Chr1:215889027 [GRCh38]
Chr1:216062369 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10923A>G (p.Arg3641=) single nucleotide variant not provided [RCV002851980] Chr1:215779859 [GRCh38]
Chr1:215953201 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5572+10A>T single nucleotide variant not provided [RCV003024449] Chr1:216078079 [GRCh38]
Chr1:216251421 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+12A>G single nucleotide variant not provided [RCV002805670] Chr1:215758583 [GRCh38]
Chr1:215931925 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1752C>T (p.Cys584=) single nucleotide variant not provided [RCV002740925] Chr1:216292263 [GRCh38]
Chr1:216465605 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2168-15A>G single nucleotide variant not provided [RCV002740928] Chr1:216247241 [GRCh38]
Chr1:216420583 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13278T>A (p.Asn4426Lys) single nucleotide variant Inborn genetic diseases [RCV002850785] Chr1:215674633 [GRCh38]
Chr1:215847975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11183G>T (p.Gly3728Val) single nucleotide variant not provided [RCV002623458] Chr1:215759708 [GRCh38]
Chr1:215933050 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12904A>G (p.Arg4302Gly) single nucleotide variant not provided [RCV003022558] Chr1:215675007 [GRCh38]
Chr1:215848349 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3318T>C (p.Ser1106=) single nucleotide variant not provided [RCV003040080] Chr1:216200120 [GRCh38]
Chr1:216373462 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3166C>T (p.Gln1056Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003465854]|not provided [RCV002872027] Chr1:216207423 [GRCh38]
Chr1:216380765 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.6632G>T (p.Gly2211Val) single nucleotide variant not provided [RCV002929114] Chr1:215998912 [GRCh38]
Chr1:216172254 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15358A>G (p.Ser5120Gly) single nucleotide variant not provided [RCV002508384] Chr1:215628975 [GRCh38]
Chr1:215802317 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2879A>G (p.Asn960Ser) single nucleotide variant not provided [RCV002829536] Chr1:216232067 [GRCh38]
Chr1:216405409 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13639del (p.Glu4547fs) deletion not provided [RCV002830111] Chr1:215674272 [GRCh38]
Chr1:215847614 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7005G>C (p.Val2335=) single nucleotide variant not provided [RCV003025879] Chr1:215965432 [GRCh38]
Chr1:216138774 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8125A>C (p.Thr2709Pro) single nucleotide variant not provided [RCV003085740] Chr1:215888524 [GRCh38]
Chr1:216061866 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6509G>A (p.Ser2170Asn) single nucleotide variant Inborn genetic diseases [RCV002787759] Chr1:215999035 [GRCh38]
Chr1:216172377 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12282T>A (p.Asn4094Lys) single nucleotide variant not provided [RCV003023799] Chr1:215680161 [GRCh38]
Chr1:215853503 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13267G>A (p.Ala4423Thr) single nucleotide variant not provided [RCV003041548] Chr1:215674644 [GRCh38]
Chr1:215847986 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.987dup (p.Asn330Ter) duplication Retinitis pigmentosa 39 [RCV003459707]|not provided [RCV003024033] Chr1:216325460..216325461 [GRCh38]
Chr1:216498802..216498803 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3025G>T (p.Ala1009Ser) single nucleotide variant not provided [RCV003007236] Chr1:216217519 [GRCh38]
Chr1:216390861 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6325+7C>T single nucleotide variant not provided [RCV002918736] Chr1:216046424 [GRCh38]
Chr1:216219766 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13519T>C (p.Tyr4507His) single nucleotide variant not provided [RCV002745548] Chr1:215674392 [GRCh38]
Chr1:215847734 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13050A>C (p.Thr4350=) single nucleotide variant not provided [RCV003059612] Chr1:215674861 [GRCh38]
Chr1:215848203 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9762A>C (p.Glu3254Asp) single nucleotide variant Inborn genetic diseases [RCV002742255] Chr1:215799103 [GRCh38]
Chr1:215972445 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3316+20A>G single nucleotide variant not provided [RCV002828529] Chr1:216207253 [GRCh38]
Chr1:216380595 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4626T>C (p.Thr1542=) single nucleotide variant not provided [RCV003084021] Chr1:216175253 [GRCh38]
Chr1:216348595 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12590G>A (p.Gly4197Glu) single nucleotide variant not provided [RCV002575419] Chr1:215675321 [GRCh38]
Chr1:215848663 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2670del (p.Ile891fs) deletion not provided [RCV002894368] Chr1:216246724 [GRCh38]
Chr1:216420066 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4140C>A (p.Ile1380=) single nucleotide variant not provided [RCV002890138] Chr1:216196664 [GRCh38]
Chr1:216370006 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2261C>T (p.Ser754Leu) single nucleotide variant not provided [RCV002801052] Chr1:216247133 [GRCh38]
Chr1:216420475 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5566G>T (p.Glu1856Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464635]|not provided [RCV002917610] Chr1:216078095 [GRCh38]
Chr1:216251437 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3219C>T (p.Ser1073=) single nucleotide variant not provided [RCV002711235] Chr1:216207370 [GRCh38]
Chr1:216380712 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5376G>A (p.Gly1792=) single nucleotide variant not provided [RCV003042316] Chr1:216078285 [GRCh38]
Chr1:216251627 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15337G>T (p.Val5113Leu) single nucleotide variant not provided [RCV002918153] Chr1:215628996 [GRCh38]
Chr1:215802338 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12722A>G (p.Tyr4241Cys) single nucleotide variant not provided [RCV003084592] Chr1:215675189 [GRCh38]
Chr1:215848531 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1644+4A>G single nucleotide variant not provided [RCV002594410] Chr1:216321879 [GRCh38]
Chr1:216495221 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2589A>G (p.Lys863=) single nucleotide variant not provided [RCV002710565] Chr1:216246805 [GRCh38]
Chr1:216420147 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.497A>G (p.Glu166Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003464595]|not provided [RCV002766908] Chr1:216418668 [GRCh38]
Chr1:216592010 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.687C>T (p.Gly229=) single nucleotide variant not provided [RCV002914770] Chr1:216365050 [GRCh38]
Chr1:216538392 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4903A>G (p.Asn1635Asp) single nucleotide variant not provided [RCV003022647] Chr1:216086803 [GRCh38]
Chr1:216260145 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9645T>C (p.Val3215=) single nucleotide variant not provided [RCV002872357] Chr1:215813830 [GRCh38]
Chr1:215987172 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10903A>C (p.Thr3635Pro) single nucleotide variant not provided [RCV002664207] Chr1:215779879 [GRCh38]
Chr1:215953221 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10689T>A (p.Tyr3563Ter) single nucleotide variant not provided [RCV002664208] Chr1:215782093 [GRCh38]
Chr1:215955435 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9371+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003475521]|not provided [RCV002664209] Chr1:215837990 [GRCh38]
Chr1:216011332 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7595-19G>A single nucleotide variant not provided [RCV003084622] Chr1:215889073 [GRCh38]
Chr1:216062415 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.253A>T (p.Ile85Phe) single nucleotide variant not provided [RCV002644341] Chr1:216422084 [GRCh38]
Chr1:216595426 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6214C>T (p.Leu2072=) single nucleotide variant not provided [RCV003007879] Chr1:216046542 [GRCh38]
Chr1:216219884 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14404T>G (p.Ser4802Ala) single nucleotide variant not provided [RCV002576133] Chr1:215648706 [GRCh38]
Chr1:215822048 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.264C>T (p.Cys88=) single nucleotide variant not provided [RCV002593478] Chr1:216422073 [GRCh38]
Chr1:216595415 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644+14dup duplication not provided [RCV002800600] Chr1:216321868..216321869 [GRCh38]
Chr1:216495210..216495211 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.3746C>T (p.Pro1249Leu) single nucleotide variant not provided [RCV002664213] Chr1:216199692 [GRCh38]
Chr1:216373034 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6325+4A>G single nucleotide variant not provided [RCV003083364] Chr1:216046427 [GRCh38]
Chr1:216219769 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10211C>T (p.Pro3404Leu) single nucleotide variant not provided [RCV003084656] Chr1:215786846 [GRCh38]
Chr1:215960188 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10096A>G (p.Lys3366Glu) single nucleotide variant not provided [RCV003084658] Chr1:215790145 [GRCh38]
Chr1:215963487 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13711G>A (p.Glu4571Lys) single nucleotide variant not provided [RCV003084944] Chr1:215674200 [GRCh38]
Chr1:215847542 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1551-15T>A single nucleotide variant not provided [RCV003042971] Chr1:216321991 [GRCh38]
Chr1:216495333 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9056-10T>C single nucleotide variant not provided [RCV002871667] Chr1:215844506 [GRCh38]
Chr1:216017848 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5120A>T (p.Glu1707Val) single nucleotide variant not provided [RCV003039949] Chr1:216084745 [GRCh38]
Chr1:216258087 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3051C>G (p.Val1017=) single nucleotide variant not provided [RCV002801128] Chr1:216217493 [GRCh38]
Chr1:216390835 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9552C>A (p.Cys3184Ter) single nucleotide variant not provided [RCV002829091] Chr1:215817015 [GRCh38]
Chr1:215990357 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10842G>T (p.Glu3614Asp) single nucleotide variant not provided [RCV003024365] Chr1:215779940 [GRCh38]
Chr1:215953282 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1338A>T (p.Pro446=) single nucleotide variant not provided [RCV002958799] Chr1:216323686 [GRCh38]
Chr1:216497028 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4568T>C (p.Ile1523Thr) single nucleotide variant not provided [RCV003081874] Chr1:216175311 [GRCh38]
Chr1:216348653 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5519G>A (p.Gly1840Glu) single nucleotide variant not provided [RCV003023677] Chr1:216078142 [GRCh38]
Chr1:216251484 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4509A>G (p.Glu1503=) single nucleotide variant not provided [RCV003005560] Chr1:216175370 [GRCh38]
Chr1:216348712 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1173T>A (p.Ser391Arg) single nucleotide variant not provided [RCV003024377] Chr1:216324323 [GRCh38]
Chr1:216497665 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15052+20C>A single nucleotide variant not provided [RCV002852652] Chr1:215639135 [GRCh38]
Chr1:215812477 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2637T>C (p.Cys879=) single nucleotide variant not provided [RCV002894852] Chr1:216246757 [GRCh38]
Chr1:216420099 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4061C>G (p.Ser1354Ter) single nucleotide variant not provided [RCV002829432] Chr1:216198335 [GRCh38]
Chr1:216371677 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3565T>C (p.Leu1189=) single nucleotide variant not provided [RCV002853407] Chr1:216199873 [GRCh38]
Chr1:216373215 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5620G>A (p.Val1874Ile) single nucleotide variant not provided [RCV003081922] Chr1:216073253 [GRCh38]
Chr1:216246595 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15053-2A>C single nucleotide variant not provided [RCV003057958] Chr1:215634705 [GRCh38]
Chr1:215808047 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13842C>A (p.Thr4614=) single nucleotide variant not provided [RCV002623425] Chr1:215671263 [GRCh38]
Chr1:215844605 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14583-1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003445198]|not provided [RCV003056436] Chr1:215647731 [GRCh38]
Chr1:215821073 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5578G>A (p.Gly1860Ser) single nucleotide variant not provided [RCV002574579] Chr1:216073295 [GRCh38]
Chr1:216246637 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6653T>C (p.Leu2218Pro) single nucleotide variant not provided [RCV003084853] Chr1:215998891 [GRCh38]
Chr1:216172233 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.552C>G (p.Thr184=) single nucleotide variant not provided [RCV002890611] Chr1:216418613 [GRCh38]
Chr1:216591955 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2301del (p.Glu767fs) deletion not provided [RCV003023859] Chr1:216247093 [GRCh38]
Chr1:216420435 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6257C>T (p.Thr2086Ile) single nucleotide variant not provided [RCV002700143] Chr1:216046499 [GRCh38]
Chr1:216219841 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6129C>T (p.Ser2043=) single nucleotide variant not provided [RCV002626955] Chr1:216048568 [GRCh38]
Chr1:216221910 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8702T>C (p.Met2901Thr) single nucleotide variant not provided [RCV003082057] Chr1:215867150 [GRCh38]
Chr1:216040492 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9600C>T (p.Pro3200=) single nucleotide variant not provided [RCV002872374] Chr1:215813875 [GRCh38]
Chr1:215987217 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1644T>A (p.His548Gln) single nucleotide variant not provided [RCV003058569] Chr1:216321883 [GRCh38]
Chr1:216495225 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9540T>C (p.Cys3180=) single nucleotide variant not provided [RCV003042792] Chr1:215817027 [GRCh38]
Chr1:215990369 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4527A>G (p.Leu1509=) single nucleotide variant not provided [RCV003007454] Chr1:216175352 [GRCh38]
Chr1:216348694 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15479del (p.Asn5160fs) deletion not provided [RCV002701480] Chr1:215628854 [GRCh38]
Chr1:215802196 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9261T>C (p.Val3087=) single nucleotide variant not provided [RCV003006253] Chr1:215838101 [GRCh38]
Chr1:216011443 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14517G>T (p.Thr4839=) single nucleotide variant not provided [RCV002700901] Chr1:215648593 [GRCh38]
Chr1:215821935 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9707G>A (p.Cys3236Tyr) single nucleotide variant not provided [RCV002928436] Chr1:215813768 [GRCh38]
Chr1:215987110 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14979C>T (p.Phe4993=) single nucleotide variant not provided [RCV002594650] Chr1:215639228 [GRCh38]
Chr1:215812570 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2418T>C (p.Thr806=) single nucleotide variant not provided [RCV003057974] Chr1:216246976 [GRCh38]
Chr1:216420318 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9571-15T>G single nucleotide variant not provided [RCV002700715] Chr1:215813919 [GRCh38]
Chr1:215987261 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7113A>G (p.Val2371=) single nucleotide variant not provided [RCV002575615] Chr1:215965324 [GRCh38]
Chr1:216138666 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7805C>A (p.Ala2602Asp) single nucleotide variant not provided [RCV002791143] Chr1:215888844 [GRCh38]
Chr1:216062186 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5678C>A (p.Ser1893Ter) single nucleotide variant not provided [RCV002801378] Chr1:216073195 [GRCh38]
Chr1:216246537 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11712-5T>G single nucleotide variant not provided [RCV003057123] Chr1:215728389 [GRCh38]
Chr1:215901731 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11217G>A (p.Leu3739=) single nucleotide variant not provided [RCV003022488] Chr1:215759674 [GRCh38]
Chr1:215933016 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9957A>G (p.Pro3319=) single nucleotide variant not provided [RCV003023501] Chr1:215798908 [GRCh38]
Chr1:215972250 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9958+4A>G single nucleotide variant not provided [RCV003058624] Chr1:215798903 [GRCh38]
Chr1:215972245 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3831A>G (p.Glu1277=) single nucleotide variant not provided [RCV002875783] Chr1:216198565 [GRCh38]
Chr1:216371907 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12708T>C (p.Cys4236=) single nucleotide variant not provided [RCV002932742] Chr1:215675203 [GRCh38]
Chr1:215848545 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.549G>A (p.Glu183=) single nucleotide variant not provided [RCV002711289] Chr1:216418616 [GRCh38]
Chr1:216591958 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14965A>C (p.Lys4989Gln) single nucleotide variant not provided [RCV003058647] Chr1:215640561 [GRCh38]
Chr1:215813903 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13957G>A (p.Val4653Ile) single nucleotide variant not provided [RCV002644524] Chr1:215671148 [GRCh38]
Chr1:215844490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14535C>T (p.Ala4845=) single nucleotide variant not provided [RCV002871983] Chr1:215648575 [GRCh38]
Chr1:215821917 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6348C>T (p.His2116=) single nucleotide variant not provided [RCV002800975] Chr1:216000540 [GRCh38]
Chr1:216173882 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5242C>T (p.Gln1748Ter) single nucleotide variant not provided [RCV003007501] Chr1:216083512 [GRCh38]
Chr1:216256854 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.953A>G (p.Tyr318Cys) single nucleotide variant not provided [RCV002667651] Chr1:216325495 [GRCh38]
Chr1:216498837 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4252-36CTTT[8] microsatellite not provided [RCV003084327] Chr1:216190379..216190380 [GRCh38]
Chr1:216363721..216363722 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13083T>C (p.Pro4361=) single nucleotide variant not provided [RCV002829441] Chr1:215674828 [GRCh38]
Chr1:215848170 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12656A>C (p.Glu4219Ala) single nucleotide variant not provided [RCV002508645] Chr1:215675255 [GRCh38]
Chr1:215848597 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1334C>G (p.Thr445Ser) single nucleotide variant not provided [RCV003005861] Chr1:216323690 [GRCh38]
Chr1:216497032 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13894C>G (p.Pro4632Ala) single nucleotide variant not provided [RCV002643617] Chr1:215671211 [GRCh38]
Chr1:215844553 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9049G>C (p.Asp3017His) single nucleotide variant not provided [RCV002626759] Chr1:215845830 [GRCh38]
Chr1:216019172 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6767C>T (p.Ser2256Phe) single nucleotide variant not provided [RCV003043052] Chr1:215993058 [GRCh38]
Chr1:216166400 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9578G>T (p.Cys3193Phe) single nucleotide variant not provided [RCV003057261] Chr1:215813897 [GRCh38]
Chr1:215987239 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13550del (p.Gly4517fs) deletion not provided [RCV002664206] Chr1:215674361 [GRCh38]
Chr1:215847703 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2310del (p.Glu771fs) deletion not provided [RCV002664215] Chr1:216247084 [GRCh38]
Chr1:216420426 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12863C>T (p.Pro4288Leu) single nucleotide variant not provided [RCV002828585] Chr1:215675048 [GRCh38]
Chr1:215848390 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10001C>T (p.Thr3334Ile) single nucleotide variant not provided [RCV002711064] Chr1:215790240 [GRCh38]
Chr1:215963582 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5857+1del deletion not provided [RCV002852633] Chr1:216072888 [GRCh38]
Chr1:216246230 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6118T>C (p.Cys2040Arg) single nucleotide variant not provided [RCV002875651] Chr1:216048579 [GRCh38]
Chr1:216221921 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1521T>C (p.Tyr507=) single nucleotide variant not provided [RCV002918729] Chr1:216323503 [GRCh38]
Chr1:216496845 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1571C>A (p.Ala524Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003465791]|not provided [RCV002594411] Chr1:216321956 [GRCh38]
Chr1:216495298 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.-259G>T single nucleotide variant not provided [RCV002664219] Chr1:216423268 [GRCh38]
Chr1:216596610 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2451C>T (p.Cys817=) single nucleotide variant not provided [RCV003040680] Chr1:216246943 [GRCh38]
Chr1:216420285 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15111C>G (p.Phe5037Leu) single nucleotide variant not provided [RCV003058214] Chr1:215634645 [GRCh38]
Chr1:215807987 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15260_15263dup (p.Leu5089fs) duplication not provided [RCV003024177] Chr1:215634492..215634493 [GRCh38]
Chr1:215807834..215807835 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5823T>C (p.Tyr1941=) single nucleotide variant not provided [RCV002871672] Chr1:216072923 [GRCh38]
Chr1:216246265 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4885+19G>A single nucleotide variant not provided [RCV002594060] Chr1:216088994 [GRCh38]
Chr1:216262336 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.342T>C (p.Asn114=) single nucleotide variant not provided [RCV002894012] Chr1:216421995 [GRCh38]
Chr1:216595337 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13696_13697insTCA (p.Tyr4565_Thr4566insIle) insertion not provided [RCV002742021] Chr1:215674214..215674215 [GRCh38]
Chr1:215847556..215847557 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3676G>A (p.Gly1226Arg) single nucleotide variant not provided [RCV003082468] Chr1:216199762 [GRCh38]
Chr1:216373104 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1500T>C (p.Val500=) single nucleotide variant not provided [RCV003010298] Chr1:216323524 [GRCh38]
Chr1:216496866 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9570+1G>T single nucleotide variant not provided [RCV002857091] Chr1:215816996 [GRCh38]
Chr1:215990338 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.246G>A (p.Arg82=) single nucleotide variant not provided [RCV002922500] Chr1:216422091 [GRCh38]
Chr1:216595433 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7245A>C (p.Ser2415=) single nucleotide variant not provided [RCV003046210] Chr1:215934671 [GRCh38]
Chr1:216108013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10388-7T>C single nucleotide variant not provided [RCV003047104] Chr1:215782942 [GRCh38]
Chr1:215956284 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9009C>A (p.Val3003=) single nucleotide variant not provided [RCV003031233] Chr1:215845870 [GRCh38]
Chr1:216019212 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11026A>G (p.Thr3676Ala) single nucleotide variant not provided [RCV002812130] Chr1:215766702 [GRCh38]
Chr1:215940044 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4953C>T (p.Leu1651=) single nucleotide variant not provided [RCV003029843] Chr1:216086753 [GRCh38]
Chr1:216260095 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3316+18G>A single nucleotide variant not provided [RCV002581975] Chr1:216207255 [GRCh38]
Chr1:216380597 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3812-8T>A single nucleotide variant not provided [RCV003031884] Chr1:216198592 [GRCh38]
Chr1:216371934 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4916T>A (p.Val1639Asp) single nucleotide variant not provided [RCV003092059] Chr1:216086790 [GRCh38]
Chr1:216260132 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15211C>A (p.Pro5071Thr) single nucleotide variant not provided [RCV002577587] Chr1:215634545 [GRCh38]
Chr1:215807887 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8725G>T (p.Gly2909Cys) single nucleotide variant not provided [RCV002631075] Chr1:215867127 [GRCh38]
Chr1:216040469 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12743_12747del (p.His4248fs) deletion not provided [RCV003047367] Chr1:215675164..215675168 [GRCh38]
Chr1:215848506..215848510 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.784+16C>T single nucleotide variant not provided [RCV002602788] Chr1:216364937 [GRCh38]
Chr1:216538279 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6512G>A (p.Gly2171Glu) single nucleotide variant not provided [RCV003092016] Chr1:215999032 [GRCh38]
Chr1:216172374 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6059C>G (p.Thr2020Arg) single nucleotide variant not provided [RCV003092018] Chr1:216048638 [GRCh38]
Chr1:216221980 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7933C>T (p.Gln2645Ter) single nucleotide variant not provided [RCV002921964] Chr1:215888716 [GRCh38]
Chr1:216062058 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15156G>A (p.Leu5052=) single nucleotide variant not provided [RCV003009788] Chr1:215634600 [GRCh38]
Chr1:215807942 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6822T>C (p.Tyr2274=) single nucleotide variant not provided [RCV003045583] Chr1:215970760 [GRCh38]
Chr1:216144102 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7788T>C (p.Tyr2596=) single nucleotide variant not provided [RCV002899051] Chr1:215888861 [GRCh38]
Chr1:216062203 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1728A>G (p.Gln576=) single nucleotide variant not provided [RCV002811682] Chr1:216292287 [GRCh38]
Chr1:216465629 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1914del (p.Val637_Cys638insTer) deletion not provided [RCV003049038] Chr1:216289337 [GRCh38]
Chr1:216462679 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.649C>T (p.Gln217Ter) single nucleotide variant not provided [RCV002810739] Chr1:216418516 [GRCh38]
Chr1:216591858 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10065A>G (p.Pro3355=) single nucleotide variant not provided [RCV002675644] Chr1:215790176 [GRCh38]
Chr1:215963518 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8290C>A (p.Pro2764Thr) single nucleotide variant not provided [RCV002582155] Chr1:215879032 [GRCh38]
Chr1:216052374 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.457T>C (p.Trp153Arg) single nucleotide variant not provided [RCV003066070] Chr1:216421880 [GRCh38]
Chr1:216595222 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10980T>G (p.Ala3660=) single nucleotide variant not provided [RCV002581000] Chr1:215766748 [GRCh38]
Chr1:215940090 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4762T>C (p.Ser1588Pro) single nucleotide variant not provided [RCV002646123] Chr1:216089136 [GRCh38]
Chr1:216262478 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7527G>A (p.Arg2509=) single nucleotide variant not provided [RCV003046475] Chr1:215900142 [GRCh38]
Chr1:216073484 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.485_485+2del deletion not provided [RCV003049318] Chr1:216421850..216421852 [GRCh38]
Chr1:216595192..216595194 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14049del (p.Lys4683fs) deletion not provided [RCV003049431] Chr1:215671056 [GRCh38]
Chr1:215844398 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2967C>G (p.Tyr989Ter) single nucleotide variant not provided [RCV003031948] Chr1:216231979 [GRCh38]
Chr1:216405321 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8908A>C (p.Asn2970His) single nucleotide variant Inborn genetic diseases [RCV002702929] Chr1:215845971 [GRCh38]
Chr1:216019313 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13858A>G (p.Ser4620Gly) single nucleotide variant not provided [RCV002922091] Chr1:215671247 [GRCh38]
Chr1:215844589 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1260T>C (p.Gly420=) single nucleotide variant not provided [RCV002579168] Chr1:216324236 [GRCh38]
Chr1:216497578 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-4G>C single nucleotide variant not provided [RCV002601690] Chr1:215671297 [GRCh38]
Chr1:215844639 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter) single nucleotide variant not provided [RCV002651402] Chr1:215650761 [GRCh38]
Chr1:215824103 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7931G>A (p.Trp2644Ter) single nucleotide variant not provided [RCV002651409] Chr1:215888718 [GRCh38]
Chr1:216062060 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6721C>A (p.Pro2241Thr) single nucleotide variant not provided [RCV002651411] Chr1:215993104 [GRCh38]
Chr1:216166446 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13814A>G (p.Tyr4605Cys) single nucleotide variant Inborn genetic diseases [RCV002812351] Chr1:215671291 [GRCh38]
Chr1:215844633 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4252-1G>A single nucleotide variant not provided [RCV002651415] Chr1:216190368 [GRCh38]
Chr1:216363710 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter) single nucleotide variant not provided [RCV002651417] Chr1:216199790 [GRCh38]
Chr1:216373132 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly) single nucleotide variant not provided [RCV002651418] Chr1:216250921 [GRCh38]
Chr1:216424263 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7398T>C (p.Ser2466=) single nucleotide variant not provided [RCV003049338] Chr1:215900808 [GRCh38]
Chr1:216074150 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10602C>T (p.Tyr3534=) single nucleotide variant not provided [RCV002676270] Chr1:215782180 [GRCh38]
Chr1:215955522 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.372T>C (p.Ser124=) single nucleotide variant not provided [RCV003049069] Chr1:216421965 [GRCh38]
Chr1:216595307 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10035A>G (p.Lys3345=) single nucleotide variant not provided [RCV002676296] Chr1:215790206 [GRCh38]
Chr1:215963548 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8223+16T>C single nucleotide variant not provided [RCV003086929] Chr1:215888410 [GRCh38]
Chr1:216061752 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2692C>T (p.Gln898Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003465899]|not provided [RCV003029090] Chr1:216246702 [GRCh38]
Chr1:216420044 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.1730G>A (p.Cys577Tyr) single nucleotide variant not provided [RCV002900167] Chr1:216292285 [GRCh38]
Chr1:216465627 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12759_12768del (p.Ser4252_Trp4253insTer) deletion not provided [RCV002811673] Chr1:215675143..215675152 [GRCh38]
Chr1:215848485..215848494 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1206G>T (p.Lys402Asn) single nucleotide variant not provided [RCV002651420] Chr1:216324290 [GRCh38]
Chr1:216497632 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.563A>G (p.Tyr188Cys) single nucleotide variant not provided [RCV002651422] Chr1:216418602 [GRCh38]
Chr1:216591944 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9202G>A (p.Val3068Met) single nucleotide variant not provided [RCV003090279] Chr1:215844350 [GRCh38]
Chr1:216017692 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15057G>C (p.Leu5019Phe) single nucleotide variant not provided [RCV003091212] Chr1:215634699 [GRCh38]
Chr1:215808041 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13038C>T (p.Pro4346=) single nucleotide variant not provided [RCV003047656] Chr1:215674873 [GRCh38]
Chr1:215848215 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1548G>A (p.Gly516=) single nucleotide variant not provided [RCV002877256] Chr1:216323476 [GRCh38]
Chr1:216496818 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4759G>C (p.Gly1587Arg) single nucleotide variant not provided [RCV002770774] Chr1:216089139 [GRCh38]
Chr1:216262481 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7451+1G>T single nucleotide variant not provided [RCV003027700] Chr1:215900754 [GRCh38]
Chr1:216074096 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1903A>C (p.Ile635Leu) single nucleotide variant not provided [RCV002601232] Chr1:216289348 [GRCh38]
Chr1:216462690 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7328T>G (p.Leu2443Arg) single nucleotide variant not provided [RCV003087533] Chr1:215900878 [GRCh38]
Chr1:216074220 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5573-9A>C single nucleotide variant not provided [RCV003066064] Chr1:216073309 [GRCh38]
Chr1:216246651 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8076A>C (p.Pro2692=) single nucleotide variant not provided [RCV003048562] Chr1:215888573 [GRCh38]
Chr1:216061915 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12199A>G (p.Ser4067Gly) single nucleotide variant not provided [RCV003087008] Chr1:215680244 [GRCh38]
Chr1:215853586 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.850G>C (p.Glu284Gln) single nucleotide variant not provided [RCV002599530] Chr1:216325598 [GRCh38]
Chr1:216498940 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1938T>C (p.Val646=) single nucleotide variant not provided [RCV002834810] Chr1:216289313 [GRCh38]
Chr1:216462655 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9534T>C (p.Ser3178=) single nucleotide variant not provided [RCV002966454] Chr1:215817033 [GRCh38]
Chr1:215990375 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3192T>A (p.Val1064=) single nucleotide variant not provided [RCV003091853] Chr1:216207397 [GRCh38]
Chr1:216380739 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14202A>G (p.Pro4734=) single nucleotide variant not provided [RCV003091890] Chr1:215650733 [GRCh38]
Chr1:215824075 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12327G>A (p.Glu4109=) single nucleotide variant not provided [RCV003031807] Chr1:215675584 [GRCh38]
Chr1:215848926 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14969-19del deletion not provided [RCV003049277] Chr1:215639257 [GRCh38]
Chr1:215812599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2245T>C (p.Cys749Arg) single nucleotide variant not provided [RCV003029340] Chr1:216247149 [GRCh38]
Chr1:216420491 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3141A>G (p.Leu1047=) single nucleotide variant not provided [RCV002600416] Chr1:216217403 [GRCh38]
Chr1:216390745 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2861A>G (p.His954Arg) single nucleotide variant not provided [RCV003065044] Chr1:216232085 [GRCh38]
Chr1:216405427 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.359C>G (p.Ala120Gly) single nucleotide variant not provided [RCV003065620] Chr1:216421978 [GRCh38]
Chr1:216595320 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13979C>T (p.Pro4660Leu) single nucleotide variant not provided [RCV002651403] Chr1:215671126 [GRCh38]
Chr1:215844468 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11091A>T (p.Thr3697=) single nucleotide variant not provided [RCV003091398] Chr1:215759800 [GRCh38]
Chr1:215933142 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003455705]|Usher syndrome type 2A [RCV003455704]|not provided [RCV003091402] Chr1:215779927 [GRCh38]
Chr1:215953269 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9725C>A (p.Ala3242Asp) single nucleotide variant not provided [RCV003045301] Chr1:215813750 [GRCh38]
Chr1:215987092 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4081+12T>C single nucleotide variant not provided [RCV002812050] Chr1:216198303 [GRCh38]
Chr1:216371645 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.449T>C (p.Leu150Ser) single nucleotide variant not provided [RCV003030468] Chr1:216421888 [GRCh38]
Chr1:216595230 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5331G>A (p.Arg1777=) single nucleotide variant not provided [RCV002676379] Chr1:216078330 [GRCh38]
Chr1:216251672 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13969T>C (p.Trp4657Arg) single nucleotide variant not provided [RCV002676394] Chr1:215671136 [GRCh38]
Chr1:215844478 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9449G>A (p.Trp3150Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003459771]|not provided [RCV002651408] Chr1:215817118 [GRCh38]
Chr1:215990460 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1588_1589insG (p.Thr530fs) insertion not provided [RCV002651419] Chr1:216321938..216321939 [GRCh38]
Chr1:216495280..216495281 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9761A>C (p.Glu3254Ala) single nucleotide variant not provided [RCV002670975] Chr1:215799104 [GRCh38]
Chr1:215972446 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13443G>A (p.Arg4481=) single nucleotide variant not provided [RCV003048942] Chr1:215674468 [GRCh38]
Chr1:215847810 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6105C>T (p.Cys2035=) single nucleotide variant not provided [RCV003048908] Chr1:216048592 [GRCh38]
Chr1:216221934 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.224G>A (p.Ser75Asn) single nucleotide variant not provided [RCV002720930] Chr1:216422113 [GRCh38]
Chr1:216595455 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8118T>G (p.His2706Gln) single nucleotide variant not provided [RCV003047912] Chr1:215888531 [GRCh38]
Chr1:216061873 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11298A>G (p.Gln3766=) single nucleotide variant not provided [RCV002857745] Chr1:215758686 [GRCh38]
Chr1:215932028 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.244C>A (p.Arg82=) single nucleotide variant not provided [RCV002720808] Chr1:216422093 [GRCh38]
Chr1:216595435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7518T>C (p.Tyr2506=) single nucleotide variant not provided [RCV003030579] Chr1:215900151 [GRCh38]
Chr1:216073493 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7151C>G (p.Thr2384Arg) single nucleotide variant not provided [RCV003065756] Chr1:215934765 [GRCh38]
Chr1:216108107 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11360A>C (p.Tyr3787Ser) single nucleotide variant Inborn genetic diseases [RCV002900781] Chr1:215758624 [GRCh38]
Chr1:215931966 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628-13C>T single nucleotide variant not provided [RCV002631651] Chr1:216097226 [GRCh38]
Chr1:216270568 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser) single nucleotide variant Inborn genetic diseases [RCV003274223]|Retinitis pigmentosa 39 [RCV003455707]|Usher syndrome type 2A [RCV003455706]|not provided [RCV003091569] Chr1:215628854 [GRCh38]
Chr1:215802196 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003455742]|Usher syndrome type 2A [RCV003455741]|not provided [RCV002629905] Chr1:215782187 [GRCh38]
Chr1:215955529 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12288G>T (p.Val4096=) single nucleotide variant not provided [RCV003029624] Chr1:215680155 [GRCh38]
Chr1:215853497 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8167C>A (p.Arg2723=) single nucleotide variant not provided [RCV002877455] Chr1:215888482 [GRCh38]
Chr1:216061824 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.92C>T (p.Thr31Ile) single nucleotide variant Inborn genetic diseases [RCV002854881] Chr1:216422245 [GRCh38]
Chr1:216595587 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9897T>A (p.Ile3299=) single nucleotide variant not provided [RCV002715093] Chr1:215798968 [GRCh38]
Chr1:215972310 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6608A>G (p.His2203Arg) single nucleotide variant not provided [RCV002746117] Chr1:215998936 [GRCh38]
Chr1:216172278 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5355A>G (p.Thr1785=) single nucleotide variant not provided [RCV003043825] Chr1:216078306 [GRCh38]
Chr1:216251648 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4593C>G (p.Pro1531=) single nucleotide variant not provided [RCV002877487] Chr1:216175286 [GRCh38]
Chr1:216348628 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10240G>A (p.Gly3414Ser) single nucleotide variant Inborn genetic diseases [RCV002747633] Chr1:215786817 [GRCh38]
Chr1:215960159 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10203C>A (p.Ile3401=) single nucleotide variant not provided [RCV002834300] Chr1:215786854 [GRCh38]
Chr1:215960196 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15463A>G (p.Lys5155Glu) single nucleotide variant not provided [RCV003063463] Chr1:215628870 [GRCh38]
Chr1:215802212 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5007del (p.Phe1669fs) deletion not provided [RCV002856884] Chr1:216084858 [GRCh38]
Chr1:216258200 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11549-17A>G single nucleotide variant not provided [RCV003088648] Chr1:215741554 [GRCh38]
Chr1:215914896 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4077A>G (p.Glu1359=) single nucleotide variant not provided [RCV002835142] Chr1:216198319 [GRCh38]
Chr1:216371661 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14191G>T (p.Gly4731Trp) single nucleotide variant not provided [RCV002770068] Chr1:215650744 [GRCh38]
Chr1:215824086 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8322A>G (p.Ala2774=) single nucleotide variant not provided [RCV002627514] Chr1:215879000 [GRCh38]
Chr1:216052342 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11021G>T (p.Gly3674Val) single nucleotide variant not provided [RCV003045729] Chr1:215766707 [GRCh38]
Chr1:215940049 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12252A>T (p.Leu4084=) single nucleotide variant not provided [RCV003027058] Chr1:215680191 [GRCh38]
Chr1:215853533 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4467A>G (p.Pro1489=) single nucleotide variant not provided [RCV002899188] Chr1:216175412 [GRCh38]
Chr1:216348754 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10994G>A (p.Gly3665Glu) single nucleotide variant not provided [RCV002770729] Chr1:215766734 [GRCh38]
Chr1:215940076 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13569C>G (p.Val4523=) single nucleotide variant not provided [RCV002961878] Chr1:215674342 [GRCh38]
Chr1:215847684 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10539T>G (p.Leu3513=) single nucleotide variant not provided [RCV002577977] Chr1:215782784 [GRCh38]
Chr1:215956126 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4495A>G (p.Ile1499Val) single nucleotide variant not provided [RCV002646129] Chr1:216175384 [GRCh38]
Chr1:216348726 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2030A>G (p.Gln677Arg) single nucleotide variant not provided [RCV002600501] Chr1:216251040 [GRCh38]
Chr1:216424382 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11985C>T (p.Ile3995=) single nucleotide variant not provided [RCV002877541] Chr1:215728111 [GRCh38]
Chr1:215901453 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4249C>G (p.Gln1417Glu) single nucleotide variant not provided [RCV002833177] Chr1:216196555 [GRCh38]
Chr1:216369897 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp) single nucleotide variant Retinitis pigmentosa 39 [RCV003455537]|Usher syndrome type 2A [RCV003455536]|not provided [RCV002577579] Chr1:216324237 [GRCh38]
Chr1:216497579 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12492C>T (p.His4164=) single nucleotide variant not provided [RCV002921897] Chr1:215675419 [GRCh38]
Chr1:215848761 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6686G>A (p.Ser2229Asn) single nucleotide variant not provided [RCV002577586] Chr1:215993139 [GRCh38]
Chr1:216166481 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1364G>A (p.Ser455Asn) single nucleotide variant not provided [RCV002672161] Chr1:216323660 [GRCh38]
Chr1:216497002 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2669C>T (p.Thr890Ile) single nucleotide variant not provided [RCV002672169] Chr1:216246725 [GRCh38]
Chr1:216420067 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15203A>G (p.His5068Arg) single nucleotide variant not provided [RCV003062907] Chr1:215634553 [GRCh38]
Chr1:215807895 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11081A>T (p.Asn3694Ile) single nucleotide variant not provided [RCV003062908] Chr1:215759810 [GRCh38]
Chr1:215933152 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4494T>C (p.Pro1498=) single nucleotide variant not provided [RCV002856937] Chr1:216175385 [GRCh38]
Chr1:216348727 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg) single nucleotide variant Inborn genetic diseases [RCV003161865]|Retinitis pigmentosa 39 [RCV003455717]|Usher syndrome type 2A [RCV003455716]|not provided [RCV002598949] Chr1:215680244 [GRCh38]
Chr1:215853586 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1802G>T (p.Gly601Val) single nucleotide variant not provided [RCV002715850] Chr1:216292213 [GRCh38]
Chr1:216465555 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7452-6A>G single nucleotide variant not provided [RCV002576870] Chr1:215900223 [GRCh38]
Chr1:216073565 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3366C>G (p.Ser1122=) single nucleotide variant not provided [RCV002899350] Chr1:216200072 [GRCh38]
Chr1:216373414 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9556del (p.Ser3186fs) deletion not provided [RCV002877090] Chr1:215817011 [GRCh38]
Chr1:215990353 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12050A>G (p.His4017Arg) single nucleotide variant Inborn genetic diseases [RCV002921081] Chr1:215728046 [GRCh38]
Chr1:215901388 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5573-5G>C single nucleotide variant not provided [RCV003044915] Chr1:216073305 [GRCh38]
Chr1:216246647 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4397-18G>A single nucleotide variant not provided [RCV002672173] Chr1:216175500 [GRCh38]
Chr1:216348842 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1146G>A (p.Val382=) single nucleotide variant not provided [RCV002792088] Chr1:216324350 [GRCh38]
Chr1:216497692 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-5del deletion not provided [RCV003088486] Chr1:215671298 [GRCh38]
Chr1:215844640 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2766T>A (p.Cys922Ter) single nucleotide variant not provided [RCV002834778] Chr1:216246628 [GRCh38]
Chr1:216419970 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8352T>C (p.Ile2784=) single nucleotide variant not provided [RCV002600358] Chr1:215878970 [GRCh38]
Chr1:216052312 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.828C>A (p.Tyr276Ter) single nucleotide variant not provided [RCV002895421] Chr1:216327611 [GRCh38]
Chr1:216500953 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8585del (p.Gln2862fs) deletion not provided [RCV002576705] Chr1:215877854 [GRCh38]
Chr1:216051196 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1609C>T (p.Leu537Phe) single nucleotide variant not provided [RCV002714991] Chr1:216321918 [GRCh38]
Chr1:216495260 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12685G>A (p.Gly4229Ser) single nucleotide variant not provided [RCV002770397] Chr1:215675226 [GRCh38]
Chr1:215848568 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14208A>G (p.Glu4736=) single nucleotide variant not provided [RCV003044974] Chr1:215650727 [GRCh38]
Chr1:215824069 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1705G>A (p.Ala569Thr) single nucleotide variant not provided [RCV002647253] Chr1:216292310 [GRCh38]
Chr1:216465652 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11549-16T>A single nucleotide variant not provided [RCV002647702] Chr1:215741553 [GRCh38]
Chr1:215914895 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5433C>T (p.Phe1811=) single nucleotide variant not provided [RCV002857468] Chr1:216078228 [GRCh38]
Chr1:216251570 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2867C>G (p.Thr956Ser) single nucleotide variant not provided [RCV003088794] Chr1:216232079 [GRCh38]
Chr1:216405421 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15545A>C (p.Asn5182Thr) single nucleotide variant not provided [RCV002645858] Chr1:215625845 [GRCh38]
Chr1:215799187 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13506T>C (p.Gly4502=) single nucleotide variant not provided [RCV003027349] Chr1:215674405 [GRCh38]
Chr1:215847747 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6928A>G (p.Thr2310Ala) single nucleotide variant not provided [RCV002598601] Chr1:215970654 [GRCh38]
Chr1:216143996 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10003A>T (p.Ile3335Leu) single nucleotide variant not provided [RCV003061308] Chr1:215790238 [GRCh38]
Chr1:215963580 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10030T>C (p.Ser3344Pro) single nucleotide variant Inborn genetic diseases [RCV002808242] Chr1:215790211 [GRCh38]
Chr1:215963553 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14280G>A (p.Lys4760=) single nucleotide variant not provided [RCV002857760] Chr1:215650655 [GRCh38]
Chr1:215823997 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5227A>C (p.Lys1743Gln) single nucleotide variant not provided [RCV002645880] Chr1:216083527 [GRCh38]
Chr1:216256869 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10011C>T (p.Cys3337=) single nucleotide variant not provided [RCV003061309] Chr1:215790230 [GRCh38]
Chr1:215963572 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6002G>A (p.Arg2001His) single nucleotide variant not provided [RCV002599255] Chr1:216070148 [GRCh38]
Chr1:216243490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5945G>T (p.Gly1982Val) single nucleotide variant not provided [RCV002578793] Chr1:216070205 [GRCh38]
Chr1:216243547 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1305T>G (p.Ser435=) single nucleotide variant not provided [RCV002898823] Chr1:216324191 [GRCh38]
Chr1:216497533 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2982T>A (p.Pro994=) single nucleotide variant not provided [RCV002899115] Chr1:216231964 [GRCh38]
Chr1:216405306 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11231+17C>T single nucleotide variant not provided [RCV002876940] Chr1:215759643 [GRCh38]
Chr1:215932985 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3962A>C (p.Gln1321Pro) single nucleotide variant not provided [RCV003086610] Chr1:216198434 [GRCh38]
Chr1:216371776 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9745G>C (p.Val3249Leu) single nucleotide variant Inborn genetic diseases [RCV002896028] Chr1:215799120 [GRCh38]
Chr1:215972462 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15190C>T (p.Gln5064Ter) single nucleotide variant not provided [RCV002833704] Chr1:215634566 [GRCh38]
Chr1:215807908 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala) single nucleotide variant Inborn genetic diseases [RCV003250656]|Retinitis pigmentosa 39 [RCV003455637]|Usher syndrome type 2A [RCV003455636]|not provided [RCV002962582] Chr1:216199758 [GRCh38]
Chr1:216373100 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11841C>T (p.Ser3947=) single nucleotide variant not provided [RCV002857636] Chr1:215728255 [GRCh38]
Chr1:215901597 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9594T>C (p.Tyr3198=) single nucleotide variant not provided [RCV002856669] Chr1:215813881 [GRCh38]
Chr1:215987223 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2001C>A (p.His667Gln) single nucleotide variant not provided [RCV002599272] Chr1:216251069 [GRCh38]
Chr1:216424411 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6737C>A (p.Ala2246Asp) single nucleotide variant not provided [RCV003088037] Chr1:215993088 [GRCh38]
Chr1:216166430 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5365C>T (p.Leu1789=) single nucleotide variant not provided [RCV002671267] Chr1:216078296 [GRCh38]
Chr1:216251638 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11420A>G (p.Tyr3807Cys) single nucleotide variant not provided [RCV002672052] Chr1:215743305 [GRCh38]
Chr1:215916647 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1329-8A>G single nucleotide variant not provided [RCV002835040] Chr1:216323703 [GRCh38]
Chr1:216497045 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15053-8T>G single nucleotide variant not provided [RCV002810744] Chr1:215634711 [GRCh38]
Chr1:215808053 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10816C>T (p.Leu3606=) single nucleotide variant not provided [RCV003048447] Chr1:215779966 [GRCh38]
Chr1:215953308 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2167+10A>G single nucleotide variant not provided [RCV003045370] Chr1:216250893 [GRCh38]
Chr1:216424235 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8551A>G (p.Asn2851Asp) single nucleotide variant not provided [RCV002716587] Chr1:215878771 [GRCh38]
Chr1:216052113 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003455604]|Usher syndrome type 2A [RCV003455603]|not provided [RCV002937643] Chr1:215779904 [GRCh38]
Chr1:215953246 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10928A>T (p.His3643Leu) single nucleotide variant not provided [RCV002631250] Chr1:215779854 [GRCh38]
Chr1:215953196 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3075A>G (p.Gln1025=) single nucleotide variant not provided [RCV003031084] Chr1:216217469 [GRCh38]
Chr1:216390811 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.147T>A (p.Val49=) single nucleotide variant not provided [RCV003010218] Chr1:216422190 [GRCh38]
Chr1:216595532 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13436T>C (p.Leu4479Pro) single nucleotide variant not provided [RCV002716224] Chr1:215674475 [GRCh38]
Chr1:215847817 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14275G>A (p.Gly4759Arg) single nucleotide variant Inborn genetic diseases [RCV003072470]|not provided [RCV003090736] Chr1:215650660 [GRCh38]
Chr1:215824002 [GRCh37]
Chr1:1q41
likely benign|uncertain significance
NM_206933.4(USH2A):c.8224-1G>A single nucleotide variant not provided [RCV002675769] Chr1:215879099 [GRCh38]
Chr1:216052441 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11121G>C (p.Lys3707Asn) single nucleotide variant not provided [RCV003026646] Chr1:215759770 [GRCh38]
Chr1:215933112 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10258T>C (p.Phe3420Leu) single nucleotide variant not provided [RCV003044351] Chr1:215786799 [GRCh38]
Chr1:215960141 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7597C>T (p.Pro2533Ser) single nucleotide variant not provided [RCV002598468] Chr1:215889052 [GRCh38]
Chr1:216062394 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14381G>A (p.Gly4794Asp) single nucleotide variant not provided [RCV002647856] Chr1:215648729 [GRCh38]
Chr1:215822071 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14178A>G (p.Thr4726=) single nucleotide variant not provided [RCV002899256] Chr1:215650757 [GRCh38]
Chr1:215824099 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4682C>T (p.Ala1561Val) single nucleotide variant not provided [RCV003089600] Chr1:216097159 [GRCh38]
Chr1:216270501 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.630A>G (p.Lys210=) single nucleotide variant not provided [RCV002670758] Chr1:216418535 [GRCh38]
Chr1:216591877 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8603A>G (p.Asn2868Ser) single nucleotide variant not provided [RCV003061465] Chr1:215877836 [GRCh38]
Chr1:216051178 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10277C>G (p.Thr3426Ser) single nucleotide variant not provided [RCV003010265] Chr1:215786780 [GRCh38]
Chr1:215960122 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.927G>T (p.Pro309=) single nucleotide variant not provided [RCV002579856] Chr1:216325521 [GRCh38]
Chr1:216498863 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14364C>T (p.Thr4788=) single nucleotide variant not provided [RCV003027176] Chr1:215648746 [GRCh38]
Chr1:215822088 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.349C>T (p.His117Tyr) single nucleotide variant Inborn genetic diseases [RCV003289526]|Retinitis pigmentosa 39 [RCV003455535]|Usher syndrome type 2A [RCV003455534]|not provided [RCV002577578] Chr1:216421988 [GRCh38]
Chr1:216595330 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7492A>C (p.Ser2498Arg) single nucleotide variant Inborn genetic diseases [RCV002809258] Chr1:215900177 [GRCh38]
Chr1:216073519 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10940-7T>G single nucleotide variant not provided [RCV003046185] Chr1:215766795 [GRCh38]
Chr1:215940137 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.157C>G (p.Pro53Ala) single nucleotide variant not provided [RCV003048180] Chr1:216422180 [GRCh38]
Chr1:216595522 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6459C>G (p.Val2153=) single nucleotide variant not provided [RCV002877309] Chr1:216000429 [GRCh38]
Chr1:216173771 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4014A>T (p.Arg1338Ser) single nucleotide variant Inborn genetic diseases [RCV002807961] Chr1:216198382 [GRCh38]
Chr1:216371724 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1534A>G (p.Ile512Val) single nucleotide variant not provided [RCV003046661] Chr1:216323490 [GRCh38]
Chr1:216496832 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6986C>T (p.Pro2329Leu) single nucleotide variant not provided [RCV003047913] Chr1:215965451 [GRCh38]
Chr1:216138793 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13495C>G (p.Leu4499Val) single nucleotide variant not provided [RCV003065107] Chr1:215674416 [GRCh38]
Chr1:215847758 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2161G>A (p.Val721Ile) single nucleotide variant Inborn genetic diseases [RCV002855069] Chr1:216250909 [GRCh38]
Chr1:216424251 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7156G>A (p.Val2386Ile) single nucleotide variant not provided [RCV002646728] Chr1:215934760 [GRCh38]
Chr1:216108102 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11372T>G (p.Val3791Gly) single nucleotide variant Inborn genetic diseases [RCV002748438] Chr1:215758612 [GRCh38]
Chr1:215931954 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7585G>A (p.Ala2529Thr) single nucleotide variant not provided [RCV003062654] Chr1:215900084 [GRCh38]
Chr1:216073426 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7973C>T (p.Thr2658Ile) single nucleotide variant not provided [RCV002937382] Chr1:215888676 [GRCh38]
Chr1:216062018 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14429G>T (p.Cys4810Phe) single nucleotide variant not provided [RCV003047644] Chr1:215648681 [GRCh38]
Chr1:215822023 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.96G>A (p.Glu32=) single nucleotide variant not provided [RCV003030194] Chr1:216422241 [GRCh38]
Chr1:216595583 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14945A>G (p.Tyr4982Cys) single nucleotide variant not provided [RCV003060972] Chr1:215640581 [GRCh38]
Chr1:215813923 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13880C>T (p.Thr4627Ile) single nucleotide variant not provided [RCV002832989] Chr1:215671225 [GRCh38]
Chr1:215844567 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13531G>A (p.Ala4511Thr) single nucleotide variant Retinitis pigmentosa 39 [RCV003459736]|not provided [RCV003061528] Chr1:215674380 [GRCh38]
Chr1:215847722 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.1971G>C (p.Gln657His) single nucleotide variant not provided [RCV002833570] Chr1:216289280 [GRCh38]
Chr1:216462622 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6321C>A (p.Val2107=) single nucleotide variant not provided [RCV002834804] Chr1:216046435 [GRCh38]
Chr1:216219777 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1277A>G (p.Asn426Ser) single nucleotide variant not provided [RCV003089266] Chr1:216324219 [GRCh38]
Chr1:216497561 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8451C>T (p.His2817=) single nucleotide variant not provided [RCV002650802] Chr1:215878871 [GRCh38]
Chr1:216052213 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13596dup (p.Ser4533fs) duplication not provided [RCV003030784] Chr1:215674314..215674315 [GRCh38]
Chr1:215847656..215847657 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7087G>A (p.Val2363Ile) single nucleotide variant not provided [RCV002576480] Chr1:215965350 [GRCh38]
Chr1:216138692 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7670G>A (p.Arg2557Lys) single nucleotide variant not provided [RCV003043733] Chr1:215888979 [GRCh38]
Chr1:216062321 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12614T>C (p.Ile4205Thr) single nucleotide variant not provided [RCV002833941] Chr1:215675297 [GRCh38]
Chr1:215848639 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15498C>T (p.Ile5166=) single nucleotide variant not provided [RCV003063911] Chr1:215628835 [GRCh38]
Chr1:215802177 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6382T>C (p.Cys2128Arg) single nucleotide variant not provided [RCV003030789] Chr1:216000506 [GRCh38]
Chr1:216173848 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4425T>A (p.Val1475=) single nucleotide variant not provided [RCV002811715] Chr1:216175454 [GRCh38]
Chr1:216348796 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3912T>C (p.Ser1304=) single nucleotide variant not provided [RCV003028435] Chr1:216198484 [GRCh38]
Chr1:216371826 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8168G>T (p.Arg2723Leu) single nucleotide variant not provided [RCV003063549] Chr1:215888481 [GRCh38]
Chr1:216061823 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11126A>G (p.Asn3709Ser) single nucleotide variant not provided [RCV003086309] Chr1:215759765 [GRCh38]
Chr1:215933107 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5804A>G (p.His1935Arg) single nucleotide variant not provided [RCV003086310] Chr1:216072942 [GRCh38]
Chr1:216246284 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter) single nucleotide variant not provided [RCV002648031] Chr1:215758656 [GRCh38]
Chr1:215931998 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13423A>C (p.Arg4475=) single nucleotide variant not provided [RCV002600728] Chr1:215674488 [GRCh38]
Chr1:215847830 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10853G>A (p.Gly3618Asp) single nucleotide variant not provided [RCV002646093] Chr1:215779929 [GRCh38]
Chr1:215953271 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.366C>A (p.Ser122Arg) single nucleotide variant not provided [RCV002627896] Chr1:216421971 [GRCh38]
Chr1:216595313 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5797G>A (p.Ala1933Thr) single nucleotide variant not provided [RCV003045943] Chr1:216072949 [GRCh38]
Chr1:216246291 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7472C>A (p.Ala2491Glu) single nucleotide variant Inborn genetic diseases [RCV002809655] Chr1:215900197 [GRCh38]
Chr1:216073539 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4955C>T (p.Pro1652Leu) single nucleotide variant not provided [RCV003090633] Chr1:216086751 [GRCh38]
Chr1:216260093 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10713G>T (p.Thr3571=) single nucleotide variant not provided [RCV002876932] Chr1:215782069 [GRCh38]
Chr1:215955411 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.486-6C>T single nucleotide variant not provided [RCV003009837] Chr1:216418685 [GRCh38]
Chr1:216592027 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13102A>C (p.Ser4368Arg) single nucleotide variant not provided [RCV003029429] Chr1:215674809 [GRCh38]
Chr1:215848151 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6903del (p.Leu2301fs) deletion not provided [RCV003047485] Chr1:215970679 [GRCh38]
Chr1:216144021 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2888G>A (p.Cys963Tyr) single nucleotide variant not provided [RCV003090315] Chr1:216232058 [GRCh38]
Chr1:216405400 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15440_15443dup (p.Met5149fs) duplication not provided [RCV003090733] Chr1:215628889..215628890 [GRCh38]
Chr1:215802231..215802232 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8748_8750dup (p.Thr2917_Val2918insThr) duplication not provided [RCV002835006] Chr1:215867101..215867102 [GRCh38]
Chr1:216040443..216040444 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10056C>G (p.Asp3352Glu) single nucleotide variant not provided [RCV002600533] Chr1:215790185 [GRCh38]
Chr1:215963527 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.75T>C (p.Phe25=) single nucleotide variant not provided [RCV002650700] Chr1:216422262 [GRCh38]
Chr1:216595604 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14408_14420del (p.Ile4803fs) deletion not provided [RCV002650701] Chr1:215648690..215648702 [GRCh38]
Chr1:215822032..215822044 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12705G>A (p.Gln4235=) single nucleotide variant not provided [RCV003009858] Chr1:215675206 [GRCh38]
Chr1:215848548 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1802del (p.Gly601fs) deletion not provided [RCV002811217] Chr1:216292213 [GRCh38]
Chr1:216465555 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3276T>C (p.Asp1092=) single nucleotide variant not provided [RCV002578348] Chr1:216207313 [GRCh38]
Chr1:216380655 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5681C>G (p.Thr1894Ser) single nucleotide variant not provided [RCV002988825] Chr1:216073192 [GRCh38]
Chr1:216246534 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4784C>T (p.Thr1595Ile) single nucleotide variant not provided [RCV003063464] Chr1:216089114 [GRCh38]
Chr1:216262456 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6887T>A (p.Phe2296Tyr) single nucleotide variant not provided [RCV002631120] Chr1:215970695 [GRCh38]
Chr1:216144037 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6326-1G>T single nucleotide variant not provided [RCV003030790] Chr1:216000563 [GRCh38]
Chr1:216173905 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3667T>C (p.Cys1223Arg) single nucleotide variant not provided [RCV003060717] Chr1:216199771 [GRCh38]
Chr1:216373113 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4298G>A (p.Gly1433Glu) single nucleotide variant not provided [RCV002895941] Chr1:216190321 [GRCh38]
Chr1:216363663 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12462T>G (p.Pro4154=) single nucleotide variant not provided [RCV002770418] Chr1:215675449 [GRCh38]
Chr1:215848791 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6042C>A (p.Asn2014Lys) single nucleotide variant not provided [RCV002581822] Chr1:216070108 [GRCh38]
Chr1:216243450 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8312del (p.Val2771fs) deletion not provided [RCV002791920] Chr1:215879010 [GRCh38]
Chr1:216052352 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10498C>T (p.Gln3500Ter) single nucleotide variant not provided [RCV003045402] Chr1:215782825 [GRCh38]
Chr1:215956167 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14843G>C (p.Cys4948Ser) single nucleotide variant not provided [RCV002578091] Chr1:215640683 [GRCh38]
Chr1:215814025 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12145G>T (p.Ala4049Ser) single nucleotide variant not provided [RCV003046149] Chr1:215680298 [GRCh38]
Chr1:215853640 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.909T>C (p.Arg303=) single nucleotide variant not provided [RCV003029110] Chr1:216325539 [GRCh38]
Chr1:216498881 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6271T>A (p.Tyr2091Asn) single nucleotide variant not provided [RCV003047039] Chr1:216046485 [GRCh38]
Chr1:216219827 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003455643]|Usher syndrome type 2A [RCV003455642]|not provided [RCV002988411] Chr1:215674971 [GRCh38]
Chr1:215848313 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8472T>C (p.Val2824=) single nucleotide variant not provided [RCV002598169] Chr1:215878850 [GRCh38]
Chr1:216052192 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9228C>A (p.Asp3076Glu) single nucleotide variant not provided [RCV002599799] Chr1:215844324 [GRCh38]
Chr1:216017666 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3718C>A (p.Gln1240Lys) single nucleotide variant not provided [RCV002834688] Chr1:216199720 [GRCh38]
Chr1:216373062 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12690G>A (p.Leu4230=) single nucleotide variant not provided [RCV002963192] Chr1:215675221 [GRCh38]
Chr1:215848563 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14527A>G (p.Arg4843Gly) single nucleotide variant not provided [RCV002651401] Chr1:215648583 [GRCh38]
Chr1:215821925 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp) single nucleotide variant Retinitis pigmentosa 39 [RCV003459770]|not provided [RCV002651404] Chr1:215674365 [GRCh38]
Chr1:215847707 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11566del (p.Ser3856fs) deletion not provided [RCV002651405] Chr1:215741520 [GRCh38]
Chr1:215914862 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6923C>A (p.Ala2308Glu) single nucleotide variant not provided [RCV002651410] Chr1:215970659 [GRCh38]
Chr1:216144001 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4758+1G>A single nucleotide variant Usher syndrome type 2A [RCV003445214]|not provided [RCV002651413] Chr1:216097082 [GRCh38]
Chr1:216270424 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2864C>A (p.Thr955Lys) single nucleotide variant not provided [RCV003060811] Chr1:216232082 [GRCh38]
Chr1:216405424 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13599A>C (p.Ser4533=) single nucleotide variant not provided [RCV003027394] Chr1:215674312 [GRCh38]
Chr1:215847654 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3874G>A (p.Glu1292Lys) single nucleotide variant not provided [RCV003011272] Chr1:216198522 [GRCh38]
Chr1:216371864 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2508A>G (p.Leu836=) single nucleotide variant not provided [RCV002834295] Chr1:216246886 [GRCh38]
Chr1:216420228 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12978T>C (p.Phe4326=) single nucleotide variant not provided [RCV002811365] Chr1:215674933 [GRCh38]
Chr1:215848275 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.551C>G (p.Thr184Ser) single nucleotide variant not provided [RCV002716706] Chr1:216418614 [GRCh38]
Chr1:216591956 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12798C>G (p.Leu4266=) single nucleotide variant not provided [RCV002835226] Chr1:215675113 [GRCh38]
Chr1:215848455 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4147G>A (p.Glu1383Lys) single nucleotide variant not provided [RCV002632728] Chr1:216196657 [GRCh38]
Chr1:216369999 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.745T>G (p.Phe249Val) single nucleotide variant not provided [RCV002962824] Chr1:216364992 [GRCh38]
Chr1:216538334 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10603A>G (p.Ile3535Val) single nucleotide variant not provided [RCV002630438] Chr1:215782179 [GRCh38]
Chr1:215955521 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5030A>G (p.His1677Arg) single nucleotide variant not provided [RCV003063165] Chr1:216084835 [GRCh38]
Chr1:216258177 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6395C>T (p.Ser2132Phe) single nucleotide variant not provided [RCV003064985] Chr1:216000493 [GRCh38]
Chr1:216173835 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13909C>T (p.Pro4637Ser) single nucleotide variant not provided [RCV002720693] Chr1:215671196 [GRCh38]
Chr1:215844538 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5046C>A (p.Tyr1682Ter) single nucleotide variant not provided [RCV003027158] Chr1:216084819 [GRCh38]
Chr1:216258161 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4033G>A (p.Ala1345Thr) single nucleotide variant not provided [RCV003044626] Chr1:216198363 [GRCh38]
Chr1:216371705 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5949A>C (p.Val1983=) single nucleotide variant not provided [RCV002833929] Chr1:216070201 [GRCh38]
Chr1:216243543 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13957G>C (p.Val4653Leu) single nucleotide variant not provided [RCV002716761] Chr1:215671148 [GRCh38]
Chr1:215844490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8973A>T (p.Thr2991=) single nucleotide variant not provided [RCV002899441] Chr1:215845906 [GRCh38]
Chr1:216019248 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14627T>C (p.Leu4876Pro) single nucleotide variant not provided [RCV003029738] Chr1:215647686 [GRCh38]
Chr1:215821028 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8735C>T (p.Pro2912Leu) single nucleotide variant not provided [RCV002675747] Chr1:215867117 [GRCh38]
Chr1:216040459 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12872C>G (p.Ser4291Cys) single nucleotide variant not provided [RCV002602345] Chr1:215675039 [GRCh38]
Chr1:215848381 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10939+10C>T single nucleotide variant not provided [RCV002899468] Chr1:215779833 [GRCh38]
Chr1:215953175 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5572+5G>A single nucleotide variant not provided [RCV002579985] Chr1:216078084 [GRCh38]
Chr1:216251426 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly) single nucleotide variant Retinitis pigmentosa 39 [RCV003455728]|Usher syndrome type 2A [RCV003455727]|not provided [RCV002632696] Chr1:216073220 [GRCh38]
Chr1:216246562 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7353T>G (p.Leu2451=) single nucleotide variant not provided [RCV003029376] Chr1:215900853 [GRCh38]
Chr1:216074195 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4994_4995delinsCA (p.Ile1665Thr) indel not provided [RCV003048566] Chr1:216084870..216084871 [GRCh38]
Chr1:216258212..216258213 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9336T>A (p.Asp3112Glu) single nucleotide variant not provided [RCV002805953] Chr1:215838026 [GRCh38]
Chr1:216011368 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His) single nucleotide variant Retinitis pigmentosa 39 [RCV003455683]|Usher syndrome type 2A [RCV003455682]|not provided [RCV003063302] Chr1:215782154 [GRCh38]
Chr1:215955496 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1764C>T (p.Ile588=) single nucleotide variant not provided [RCV003030623] Chr1:216292251 [GRCh38]
Chr1:216465593 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9259-10A>G single nucleotide variant not provided [RCV002806040] Chr1:215838113 [GRCh38]
Chr1:216011455 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met) single nucleotide variant Retinitis pigmentosa 39 [RCV003455609]|Usher syndrome type 2A [RCV003455608]|not provided [RCV002922966] Chr1:215640609 [GRCh38]
Chr1:215813951 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1932T>C (p.Asp644=) single nucleotide variant not provided [RCV003047285] Chr1:216289319 [GRCh38]
Chr1:216462661 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14085A>G (p.Thr4695=) single nucleotide variant not provided [RCV003010443] Chr1:215671020 [GRCh38]
Chr1:215844362 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15266_15294del (p.Leu5089fs) deletion Retinitis pigmentosa 39 [RCV003459758]|not provided [RCV002603340] Chr1:215634462..215634490 [GRCh38]
Chr1:215807804..215807832 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003455686]|Usher syndrome type 2A [RCV003455685]|not provided [RCV003067666] Chr1:215900858 [GRCh38]
Chr1:216074200 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3932C>T (p.Ser1311Leu) single nucleotide variant not provided [RCV003051064] Chr1:216198464 [GRCh38]
Chr1:216371806 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2463T>C (p.Val821=) single nucleotide variant not provided [RCV002634809] Chr1:216246931 [GRCh38]
Chr1:216420273 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003455688]|Usher syndrome type 2A [RCV003455687]|not provided [RCV003067853] Chr1:216078182 [GRCh38]
Chr1:216251524 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3836A>G (p.Tyr1279Cys) single nucleotide variant not provided [RCV003067854] Chr1:216198560 [GRCh38]
Chr1:216371902 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr) single nucleotide variant Inborn genetic diseases [RCV002633852]|Retinitis pigmentosa 39 [RCV003455736]|Usher syndrome type 2A [RCV003455735]|not provided [RCV002633853] Chr1:216422252 [GRCh38]
Chr1:216595594 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12489C>A (p.Val4163=) single nucleotide variant not provided [RCV002942829] Chr1:215675422 [GRCh38]
Chr1:215848764 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6486-5_6486-4delinsTT indel not provided [RCV003051553] Chr1:215999062..215999063 [GRCh38]
Chr1:216172404..216172405 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2821T>G (p.Ser941Ala) single nucleotide variant not provided [RCV002605147] Chr1:216232125 [GRCh38]
Chr1:216405467 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15053-1G>A single nucleotide variant not provided [RCV002634332] Chr1:215634704 [GRCh38]
Chr1:215808046 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12806C>A (p.Pro4269His) single nucleotide variant not provided [RCV002634333] Chr1:215675105 [GRCh38]
Chr1:215848447 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9959-1G>C single nucleotide variant not provided [RCV002634336] Chr1:215790283 [GRCh38]
Chr1:215963625 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2071T>C (p.Cys691Arg) single nucleotide variant not provided [RCV002634347] Chr1:216250999 [GRCh38]
Chr1:216424341 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14255T>G (p.Val4752Gly) single nucleotide variant not provided [RCV003068722] Chr1:215650680 [GRCh38]
Chr1:215824022 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13547G>A (p.Gly4516Glu) single nucleotide variant not provided [RCV002725768] Chr1:215674364 [GRCh38]
Chr1:215847706 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14893G>C (p.Val4965Leu) single nucleotide variant not provided [RCV002721549] Chr1:215640633 [GRCh38]
Chr1:215813975 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003455544]|Usher syndrome type 2A [RCV003455543]|not provided [RCV002604280] Chr1:216199629 [GRCh38]
Chr1:216372971 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12674A>G (p.Tyr4225Cys) single nucleotide variant not provided [RCV002944176] Chr1:215675237 [GRCh38]
Chr1:215848579 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13823G>C (p.Arg4608Pro) single nucleotide variant not provided [RCV002942495] Chr1:215671282 [GRCh38]
Chr1:215844624 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3019T>A (p.Ser1007Thr) single nucleotide variant not provided [RCV002603383] Chr1:216217525 [GRCh38]
Chr1:216390867 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4758+15A>G single nucleotide variant not provided [RCV003051004] Chr1:216097068 [GRCh38]
Chr1:216270410 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.343G>C (p.Asp115His) single nucleotide variant not provided [RCV002605348] Chr1:216421994 [GRCh38]
Chr1:216595336 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12781G>A (p.Ala4261Thr) single nucleotide variant not provided [RCV003092371] Chr1:215675130 [GRCh38]
Chr1:215848472 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10504G>C (p.Val3502Leu) single nucleotide variant not provided [RCV002603736] Chr1:215782819 [GRCh38]
Chr1:215956161 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10413A>T (p.Thr3471=) single nucleotide variant not provided [RCV002584168] Chr1:215782910 [GRCh38]
Chr1:215956252 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12851C>T (p.Ser4284Phe) single nucleotide variant not provided [RCV002604465] Chr1:215675060 [GRCh38]
Chr1:215848402 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2672T>C (p.Ile891Thr) single nucleotide variant not provided [RCV003069828] Chr1:216246722 [GRCh38]
Chr1:216420064 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5843G>A (p.Arg1948His) single nucleotide variant not provided [RCV002654750] Chr1:216072903 [GRCh38]
Chr1:216246245 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14018A>G (p.Tyr4673Cys) single nucleotide variant not provided [RCV002721895] Chr1:215671087 [GRCh38]
Chr1:215844429 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4777A>G (p.Thr1593Ala) single nucleotide variant not provided [RCV002606427] Chr1:216089121 [GRCh38]
Chr1:216262463 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1214A>T (p.Asn405Ile) single nucleotide variant not provided [RCV002635433] Chr1:216324282 [GRCh38]
Chr1:216497624 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13859G>A (p.Ser4620Asn) single nucleotide variant not provided [RCV003051315] Chr1:215671246 [GRCh38]
Chr1:215844588 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4510A>G (p.Arg1504Gly) single nucleotide variant not provided [RCV002585004] Chr1:216175369 [GRCh38]
Chr1:216348711 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10544A>C (p.Asp3515Ala) single nucleotide variant not provided [RCV002583978] Chr1:215782779 [GRCh38]
Chr1:215956121 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10110C>T (p.Cys3370=) single nucleotide variant not provided [RCV002721643] Chr1:215790131 [GRCh38]
Chr1:215963473 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10322A>G (p.Glu3441Gly) single nucleotide variant not provided [RCV002634215] Chr1:215786735 [GRCh38]
Chr1:215960077 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4693A>G (p.Asn1565Asp) single nucleotide variant not provided [RCV003069355] Chr1:216097148 [GRCh38]
Chr1:216270490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10274G>T (p.Cys3425Phe) single nucleotide variant not provided [RCV003093178] Chr1:215786783 [GRCh38]
Chr1:215960125 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15548C>T (p.Ala5183Val) single nucleotide variant not provided [RCV002943772] Chr1:215625842 [GRCh38]
Chr1:215799184 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10259T>C (p.Phe3420Ser) single nucleotide variant not provided [RCV002605873] Chr1:215786798 [GRCh38]
Chr1:215960140 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5729A>G (p.Gln1910Arg) single nucleotide variant not provided [RCV003052582] Chr1:216073144 [GRCh38]
Chr1:216246486 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9549T>C (p.Ile3183=) single nucleotide variant not provided [RCV002603949] Chr1:215817018 [GRCh38]
Chr1:215990360 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8799G>C (p.Ala2933=) single nucleotide variant not provided [RCV002583157] Chr1:215867053 [GRCh38]
Chr1:216040395 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4082-17del deletion not provided [RCV003069643] Chr1:216196739 [GRCh38]
Chr1:216370081 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6488G>A (p.Trp2163Ter) single nucleotide variant not provided [RCV002634339] Chr1:215999056 [GRCh38]
Chr1:216172398 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6029del (p.Val2010fs) deletion Retinitis pigmentosa 39 [RCV003459772]|not provided [RCV002634340] Chr1:216070121 [GRCh38]
Chr1:216243463 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4144T>G (p.Trp1382Gly) single nucleotide variant not provided [RCV002634343] Chr1:216196660 [GRCh38]
Chr1:216370002 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3959C>T (p.Pro1320Leu) single nucleotide variant not provided [RCV002634345] Chr1:216198437 [GRCh38]
Chr1:216371779 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1898C>A (p.Ser633Ter) single nucleotide variant not provided [RCV002634348] Chr1:216289353 [GRCh38]
Chr1:216462695 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1696C>T (p.Gln566Ter) single nucleotide variant not provided [RCV002634349] Chr1:216292319 [GRCh38]
Chr1:216465661 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12320T>G (p.Phe4107Cys) single nucleotide variant not provided [RCV002725725] Chr1:215675591 [GRCh38]
Chr1:215848933 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1143+19G>T single nucleotide variant not provided [RCV003093393] Chr1:216325286 [GRCh38]
Chr1:216498628 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-5T>G single nucleotide variant not provided [RCV003067305] Chr1:216190372 [GRCh38]
Chr1:216363714 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4886-16A>C single nucleotide variant not provided [RCV002653230] Chr1:216086836 [GRCh38]
Chr1:216260178 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7451+7A>T single nucleotide variant not provided [RCV003066096] Chr1:215900748 [GRCh38]
Chr1:216074090 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10351A>G (p.Ile3451Val) single nucleotide variant not provided [RCV002653281] Chr1:215786706 [GRCh38]
Chr1:215960048 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6485+16G>A single nucleotide variant not provided [RCV003092267] Chr1:216000387 [GRCh38]
Chr1:216173729 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6657+19C>T single nucleotide variant not provided [RCV003050763] Chr1:215998868 [GRCh38]
Chr1:216172210 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8208A>G (p.Glu2736=) single nucleotide variant not provided [RCV003050117] Chr1:215888441 [GRCh38]
Chr1:216061783 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9929AAG[1] (p.Glu3311del) microsatellite not provided [RCV003066752] Chr1:215798931..215798933 [GRCh38]
Chr1:215972273..215972275 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5524A>G (p.Ile1842Val) single nucleotide variant not provided [RCV002603618] Chr1:216078137 [GRCh38]
Chr1:216251479 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6203C>T (p.Pro2068Leu) single nucleotide variant not provided [RCV002725529] Chr1:216046553 [GRCh38]
Chr1:216219895 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4188G>A (p.Gly1396=) single nucleotide variant not provided [RCV002654907] Chr1:216196616 [GRCh38]
Chr1:216369958 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11054G>C (p.Trp3685Ser) single nucleotide variant not provided [RCV003069347] Chr1:215759837 [GRCh38]
Chr1:215933179 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14254G>C (p.Val4752Leu) single nucleotide variant not provided [RCV002603016] Chr1:215650681 [GRCh38]
Chr1:215824023 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3640G>A (p.Ala1214Thr) single nucleotide variant not provided [RCV003051473] Chr1:216199798 [GRCh38]
Chr1:216373140 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8132G>A (p.Ser2711Asn) single nucleotide variant not provided [RCV002654969] Chr1:215888517 [GRCh38]
Chr1:216061859 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7064C>T (p.Pro2355Leu) single nucleotide variant not provided [RCV003067453] Chr1:215965373 [GRCh38]
Chr1:216138715 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11481A>G (p.Gln3827=) single nucleotide variant not provided [RCV002584750] Chr1:215743244 [GRCh38]
Chr1:215916586 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4081+17del deletion not provided [RCV003050981] Chr1:216198298 [GRCh38]
Chr1:216371640 [GRCh37]
Chr1:1q41
benign
NM_206933.4(USH2A):c.11762G>A (p.Gly3921Glu) single nucleotide variant not provided [RCV002587476] Chr1:215728334 [GRCh38]
Chr1:215901676 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8085A>C (p.Lys2695Asn) single nucleotide variant not provided [RCV002609271] Chr1:215888564 [GRCh38]
Chr1:216061906 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15118G>T (p.Glu5040Ter) single nucleotide variant not provided [RCV002721486] Chr1:215634638 [GRCh38]
Chr1:215807980 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14892C>A (p.Tyr4964Ter) single nucleotide variant not provided [RCV003066260] Chr1:215640634 [GRCh38]
Chr1:215813976 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1447A>G (p.Thr483Ala) single nucleotide variant not provided [RCV003072539] Chr1:216323577 [GRCh38]
Chr1:216496919 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10592T>C (p.Ile3531Thr) single nucleotide variant not provided [RCV003070264] Chr1:215782190 [GRCh38]
Chr1:215955532 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1644+18C>G single nucleotide variant not provided [RCV003070271] Chr1:216321865 [GRCh38]
Chr1:216495207 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4512G>A (p.Arg1504=) single nucleotide variant not provided [RCV002944317] Chr1:216175367 [GRCh38]
Chr1:216348709 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10004T>C (p.Ile3335Thr) single nucleotide variant not provided [RCV003069211] Chr1:215790237 [GRCh38]
Chr1:215963579 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9056-16C>A single nucleotide variant not provided [RCV003069230] Chr1:215844512 [GRCh38]
Chr1:216017854 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14344-13C>T single nucleotide variant not provided [RCV003069256] Chr1:215648779 [GRCh38]
Chr1:215822121 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1901C>T (p.Ala634Val) single nucleotide variant not provided [RCV002609657] Chr1:216289350 [GRCh38]
Chr1:216462692 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.652-8T>C single nucleotide variant not provided [RCV002585963] Chr1:216365093 [GRCh38]
Chr1:216538435 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5644G>A (p.Gly1882Ser) single nucleotide variant not provided [RCV003051068] Chr1:216073229 [GRCh38]
Chr1:216246571 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile) single nucleotide variant Inborn genetic diseases [RCV002944805] Chr1:215625831 [GRCh38]
Chr1:215799173 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6049+20A>C single nucleotide variant not provided [RCV003071755] Chr1:216070081 [GRCh38]
Chr1:216243423 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8724G>C (p.Val2908=) single nucleotide variant not provided [RCV002605148] Chr1:215867128 [GRCh38]
Chr1:216040470 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5353A>C (p.Thr1785Pro) single nucleotide variant not provided [RCV002603428] Chr1:216078308 [GRCh38]
Chr1:216251650 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2043C>T (p.Tyr681=) single nucleotide variant not provided [RCV002721789] Chr1:216251027 [GRCh38]
Chr1:216424369 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12695C>T (p.Pro4232Leu) single nucleotide variant not provided [RCV002634335] Chr1:215675216 [GRCh38]
Chr1:215848558 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5735_5736del (p.Lys1912fs) deletion not provided [RCV002634341] Chr1:216073137..216073138 [GRCh38]
Chr1:216246479..216246480 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.785-10G>A single nucleotide variant not provided [RCV002605856] Chr1:216327664 [GRCh38]
Chr1:216501006 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5973C>G (p.Ala1991=) single nucleotide variant not provided [RCV003052586] Chr1:216070177 [GRCh38]
Chr1:216243519 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9148G>T (p.Val3050Phe) single nucleotide variant not provided [RCV003071923] Chr1:215844404 [GRCh38]
Chr1:216017746 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2160C>T (p.Asn720=) single nucleotide variant not provided [RCV002587970] Chr1:216250910 [GRCh38]
Chr1:216424252 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13347T>G (p.Ser4449=) single nucleotide variant not provided [RCV002587999] Chr1:215674564 [GRCh38]
Chr1:215847906 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13346C>T (p.Ser4449Phe) single nucleotide variant not provided [RCV002588000] Chr1:215674565 [GRCh38]
Chr1:215847907 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1971+17A>G single nucleotide variant not provided [RCV003070819] Chr1:216289263 [GRCh38]
Chr1:216462605 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7861C>T (p.Pro2621Ser) single nucleotide variant not provided [RCV003070822] Chr1:215888788 [GRCh38]
Chr1:216062130 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1336C>T (p.Pro446Ser) single nucleotide variant not provided [RCV003068809] Chr1:216323688 [GRCh38]
Chr1:216497030 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11582A>G (p.Lys3861Arg) single nucleotide variant not provided [RCV003070907] Chr1:215741504 [GRCh38]
Chr1:215914846 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2941C>T (p.Arg981Cys) single nucleotide variant not provided [RCV003072009] Chr1:216232005 [GRCh38]
Chr1:216405347 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.485+17G>A single nucleotide variant not provided [RCV003073208] Chr1:216421835 [GRCh38]
Chr1:216595177 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6006G>A (p.Met2002Ile) single nucleotide variant not provided [RCV003068856] Chr1:216070144 [GRCh38]
Chr1:216243486 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13353A>G (p.Thr4451=) single nucleotide variant not provided [RCV002584603] Chr1:215674558 [GRCh38]
Chr1:215847900 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11834G>A (p.Cys3945Tyr) single nucleotide variant not provided [RCV002606996] Chr1:215728262 [GRCh38]
Chr1:215901604 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4255T>C (p.Leu1419=) single nucleotide variant not provided [RCV002590043] Chr1:216190364 [GRCh38]
Chr1:216363706 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14218G>A (p.Ala4740Thr) single nucleotide variant not provided [RCV003092881] Chr1:215650717 [GRCh38]
Chr1:215824059 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7198G>A (p.Asp2400Asn) single nucleotide variant not provided [RCV003092889] Chr1:215934718 [GRCh38]
Chr1:216108060 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2168-20del deletion not provided [RCV003092938] Chr1:216247246 [GRCh38]
Chr1:216420588 [GRCh37]
Chr1:1q41
benign
USH2A, 4-BP DEL, 13112AAAT deletion Retinitis pigmentosa 39 [RCV003152441]   pathogenic
NM_206933.4(USH2A):c.1345C>T (p.Arg449Cys) single nucleotide variant not provided [RCV002942241] Chr1:216323679 [GRCh38]
Chr1:216497021 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8378T>C (p.Ile2793Thr) single nucleotide variant not provided [RCV003051457] Chr1:215878944 [GRCh38]
Chr1:216052286 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10682A>G (p.Gln3561Arg) single nucleotide variant not provided [RCV002584731] Chr1:215782100 [GRCh38]
Chr1:215955442 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13978C>T (p.Pro4660Ser) single nucleotide variant not provided [RCV002585599] Chr1:215671127 [GRCh38]
Chr1:215844469 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1163A>G (p.Gln388Arg) single nucleotide variant not provided [RCV002588497] Chr1:216324333 [GRCh38]
Chr1:216497675 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11146C>A (p.Gln3716Lys) single nucleotide variant not provided [RCV002588499] Chr1:215759745 [GRCh38]
Chr1:215933087 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11547T>C (p.Asn3849=) single nucleotide variant not provided [RCV002942355] Chr1:215743178 [GRCh38]
Chr1:215916520 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15426C>T (p.His5142=) single nucleotide variant not provided [RCV002590262] Chr1:215628907 [GRCh38]
Chr1:215802249 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.656A>T (p.His219Leu) single nucleotide variant not provided [RCV002612969] Chr1:216365081 [GRCh38]
Chr1:216538423 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6326-9A>G single nucleotide variant not provided [RCV002721653] Chr1:216000571 [GRCh38]
Chr1:216173913 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.785-15T>G single nucleotide variant not provided [RCV002609054] Chr1:216327669 [GRCh38]
Chr1:216501011 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12117T>C (p.Tyr4039=) single nucleotide variant not provided [RCV002609065] Chr1:215680326 [GRCh38]
Chr1:215853668 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met) single nucleotide variant not provided [RCV002610919] Chr1:215647650 [GRCh38]
Chr1:215820992 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4759-17T>C single nucleotide variant not provided [RCV002610931] Chr1:216089156 [GRCh38]
Chr1:216262498 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12350T>C (p.Phe4117Ser) single nucleotide variant not provided [RCV002613123] Chr1:215675561 [GRCh38]
Chr1:215848903 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15285G>A (p.Gly5095=) single nucleotide variant not provided [RCV002588605] Chr1:215634471 [GRCh38]
Chr1:215807813 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.849-9C>G single nucleotide variant not provided [RCV002609240] Chr1:216325608 [GRCh38]
Chr1:216498950 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2537C>T (p.Pro846Leu) single nucleotide variant not provided [RCV002611091] Chr1:216246857 [GRCh38]
Chr1:216420199 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10576C>T (p.Gln3526Ter) single nucleotide variant not provided [RCV002613183] Chr1:215782747 [GRCh38]
Chr1:215956089 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6239dup (p.Ala2081fs) duplication not provided [RCV002613184] Chr1:216046516..216046517 [GRCh38]
Chr1:216219858..216219859 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5152C>T (p.Gln1718Ter) single nucleotide variant not provided [RCV002613185] Chr1:216084713 [GRCh38]
Chr1:216258055 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14583-20C>T single nucleotide variant not provided [RCV003069372] Chr1:215647750 [GRCh38]
Chr1:215821092 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys) single nucleotide variant Inborn genetic diseases [RCV002633777]|Retinitis pigmentosa 39 [RCV003455734]|Usher syndrome type 2A [RCV003455733]|not provided [RCV002633776] Chr1:215680325 [GRCh38]
Chr1:215853667 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8846-3C>G single nucleotide variant not provided [RCV002654357] Chr1:215846036 [GRCh38]
Chr1:216019378 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5559G>A (p.Leu1853=) single nucleotide variant not provided [RCV002942656] Chr1:216078102 [GRCh38]
Chr1:216251444 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5626T>C (p.Leu1876=) single nucleotide variant not provided [RCV002583794] Chr1:216073247 [GRCh38]
Chr1:216246589 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser) single nucleotide variant Retinitis pigmentosa 39 [RCV003455696]|Usher syndrome type 2A [RCV003455695]|not provided [RCV003069427]|not specified [RCV003331430] Chr1:215671211 [GRCh38]
Chr1:215844553 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10355A>G (p.His3452Arg) single nucleotide variant not provided [RCV003069433] Chr1:215786702 [GRCh38]
Chr1:215960044 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12522C>G (p.Ser4174Arg) single nucleotide variant not provided [RCV003071831] Chr1:215675389 [GRCh38]
Chr1:215848731 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12622G>A (p.Asp4208Asn) single nucleotide variant not provided [RCV002611316] Chr1:215675289 [GRCh38]
Chr1:215848631 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14993C>T (p.Thr4998Met) single nucleotide variant not provided [RCV002943987] Chr1:215639214 [GRCh38]
Chr1:215812556 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11922A>G (p.Gln3974=) single nucleotide variant not provided [RCV002607808] Chr1:215728174 [GRCh38]
Chr1:215901516 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9487C>A (p.Gln3163Lys) single nucleotide variant not provided [RCV002589034] Chr1:215817080 [GRCh38]
Chr1:215990422 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4628G>A (p.Gly1543Asp) single nucleotide variant not provided [RCV002583983] Chr1:216097213 [GRCh38]
Chr1:216270555 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5777-13A>T single nucleotide variant not provided [RCV003066887] Chr1:216072982 [GRCh38]
Chr1:216246324 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8990T>C (p.Ile2997Thr) single nucleotide variant not provided [RCV002635132] Chr1:215845889 [GRCh38]
Chr1:216019231 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1174C>T (p.Pro392Ser) single nucleotide variant not provided [RCV003072099] Chr1:216324322 [GRCh38]
Chr1:216497664 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9371+19G>C single nucleotide variant not provided [RCV003072101] Chr1:215837972 [GRCh38]
Chr1:216011314 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5767C>G (p.Pro1923Ala) single nucleotide variant not provided [RCV003072276] Chr1:216073106 [GRCh38]
Chr1:216246448 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6164-20A>G single nucleotide variant not provided [RCV002589237] Chr1:216046612 [GRCh38]
Chr1:216219954 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12792A>G (p.Glu4264=) single nucleotide variant not provided [RCV002611758] Chr1:215675119 [GRCh38]
Chr1:215848461 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4761G>A (p.Gly1587=) single nucleotide variant not provided [RCV002605062] Chr1:216089137 [GRCh38]
Chr1:216262479 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1854G>A (p.Glu618=) single nucleotide variant not provided [RCV002725533] Chr1:216289397 [GRCh38]
Chr1:216462739 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6690G>A (p.Glu2230=) single nucleotide variant not provided [RCV003070148] Chr1:215993135 [GRCh38]
Chr1:216166477 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4683A>G (p.Ala1561=) single nucleotide variant not provided [RCV002589530] Chr1:216097158 [GRCh38]
Chr1:216270500 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10939+12A>T single nucleotide variant not provided [RCV002611971] Chr1:215779831 [GRCh38]
Chr1:215953173 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14780C>T (p.Thr4927Ile) single nucleotide variant not provided [RCV002815034] Chr1:215647533 [GRCh38]
Chr1:215820875 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.683A>G (p.Asn228Ser) single nucleotide variant not provided [RCV003093258] Chr1:216365054 [GRCh38]
Chr1:216538396 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10875C>T (p.Ile3625=) single nucleotide variant not provided [RCV002725540] Chr1:215779907 [GRCh38]
Chr1:215953249 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2584A>T (p.Asn862Tyr) single nucleotide variant not provided [RCV003093350] Chr1:216246810 [GRCh38]
Chr1:216420152 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5522G>A (p.Gly1841Glu) single nucleotide variant not provided [RCV002634342] Chr1:216078139 [GRCh38]
Chr1:216251481 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4141T>A (p.Ser1381Thr) single nucleotide variant not provided [RCV002634344] Chr1:216196663 [GRCh38]
Chr1:216370005 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12066+9C>T single nucleotide variant not provided [RCV002612055] Chr1:215728021 [GRCh38]
Chr1:215901363 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1107G>T (p.Val369=) single nucleotide variant not provided [RCV003052024] Chr1:216325341 [GRCh38]
Chr1:216498683 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5573-9A>G single nucleotide variant not provided [RCV002606656] Chr1:216073309 [GRCh38]
Chr1:216246651 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1655G>C (p.Cys552Ser) single nucleotide variant not provided [RCV002634350] Chr1:216292360 [GRCh38]
Chr1:216465702 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5630C>A (p.Ala1877Glu) single nucleotide variant not provided [RCV002604078] Chr1:216073243 [GRCh38]
Chr1:216246585 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5_6delinsTA (p.Asn2Ile) indel not provided [RCV003070547] Chr1:216422331..216422332 [GRCh38]
Chr1:216595673..216595674 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12479C>T (p.Ala4160Val) single nucleotide variant not provided [RCV002586074] Chr1:215675432 [GRCh38]
Chr1:215848774 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5722G>A (p.Val1908Ile) single nucleotide variant not provided [RCV002587890] Chr1:216073151 [GRCh38]
Chr1:216246493 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1255T>C (p.Cys419Arg) single nucleotide variant not provided [RCV002589916] Chr1:216324241 [GRCh38]
Chr1:216497583 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.235T>C (p.Cys79Arg) single nucleotide variant not provided [RCV003066074] Chr1:216422102 [GRCh38]
Chr1:216595444 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14915G>A (p.Arg4972His) single nucleotide variant not provided [RCV003070803] Chr1:215640611 [GRCh38]
Chr1:215813953 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5572G>C (p.Gly1858Arg) single nucleotide variant not provided [RCV002589984] Chr1:216078089 [GRCh38]
Chr1:216251431 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10971T>G (p.Thr3657=) single nucleotide variant not provided [RCV003066250] Chr1:215766757 [GRCh38]
Chr1:215940099 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.568A>G (p.Thr190Ala) single nucleotide variant not provided [RCV002610560] Chr1:216418597 [GRCh38]
Chr1:216591939 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13548G>A (p.Gly4516=) single nucleotide variant not provided [RCV002590110] Chr1:215674363 [GRCh38]
Chr1:215847705 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11828G>C (p.Arg3943Thr) single nucleotide variant not provided [RCV002721480] Chr1:215728268 [GRCh38]
Chr1:215901610 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12119G>A (p.Arg4040His) single nucleotide variant not provided [RCV003073407] Chr1:215680324 [GRCh38]
Chr1:215853666 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14054A>T (p.Asn4685Ile) single nucleotide variant not provided [RCV003073412] Chr1:215671051 [GRCh38]
Chr1:215844393 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV003155537] Chr1:215782058 [GRCh38]
Chr1:215955400 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7120+1475A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV003155539] Chr1:215963842 [GRCh38]
Chr1:216137184 [GRCh37]
Chr1:1q41
likely pathogenic
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del deletion Usher syndrome [RCV003155866] Chr1:216380614..216380774 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly) single nucleotide variant Usher syndrome [RCV003155887] Chr1:216084721 [GRCh38]
Chr1:216258063 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10593del (p.Ile3532fs) deletion Autosomal dominant nonsyndromic hearing loss 36 [RCV003155536] Chr1:215782189 [GRCh38]
Chr1:215955531 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9699del (p.His3234fs) deletion Usher syndrome type 2A [RCV003155553] Chr1:215813776 [GRCh38]
Chr1:215987118 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 36 [RCV003155538] Chr1:215671141 [GRCh38]
Chr1:215844483 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4416del (p.Pro1473fs) deletion not provided [RCV003131847] Chr1:216175463 [GRCh38]
Chr1:216348805 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6313T>C (p.Tyr2105His) single nucleotide variant Inborn genetic diseases [RCV003295853] Chr1:216046443 [GRCh38]
Chr1:216219785 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1625G>T (p.Ser542Ile) single nucleotide variant Retinitis pigmentosa 39 [RCV003226892] Chr1:216321902 [GRCh38]
Chr1:216495244 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.703dup (p.Thr235fs) duplication Usher syndrome [RCV003226619] Chr1:216365033..216365034 [GRCh38]
Chr1:216538375..216538376 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.698del (p.Asp233fs) deletion Usher syndrome [RCV003226620] Chr1:216365039 [GRCh38]
Chr1:216538381 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14767A>G (p.Ile4923Val) single nucleotide variant Inborn genetic diseases [RCV003219720] Chr1:215647546 [GRCh38]
Chr1:215820888 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5603_5613del (p.Phe1868fs) deletion Retinitis pigmentosa 39 [RCV003459786]|not provided [RCV003133086] Chr1:216073260..216073270 [GRCh38]
Chr1:216246602..216246612 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.13660C>T (p.Pro4554Ser) single nucleotide variant Inborn genetic diseases [RCV003201656] Chr1:215674251 [GRCh38]
Chr1:215847593 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3638T>C (p.Phe1213Ser) single nucleotide variant Inborn genetic diseases [RCV003286860] Chr1:216199800 [GRCh38]
Chr1:216373142 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5098A>T (p.Ile1700Phe) single nucleotide variant not provided [RCV003159490] Chr1:216084767 [GRCh38]
Chr1:216258109 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11066G>A (p.Arg3689Gln) single nucleotide variant not provided [RCV003224011] Chr1:215759825 [GRCh38]
Chr1:215933167 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003224961] Chr1:215675213 [GRCh38]
Chr1:215848555 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11532A>G (p.Ile3844Met) single nucleotide variant not provided [RCV003139245] Chr1:215743193 [GRCh38]
Chr1:215916535 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.977A>G (p.Asp326Gly) single nucleotide variant not provided [RCV003139246] Chr1:216325471 [GRCh38]
Chr1:216498813 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3901G>A (p.Gly1301Ser) single nucleotide variant Inborn genetic diseases [RCV003180448] Chr1:216198495 [GRCh38]
Chr1:216371837 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3461del (p.Thr1153_Leu1154insTer) deletion not provided [RCV003133103] Chr1:216199977 [GRCh38]
Chr1:216373319 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15583A>G (p.Thr5195Ala) single nucleotide variant Inborn genetic diseases [RCV003205007] Chr1:215625807 [GRCh38]
Chr1:215799149 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5075A>C (p.Asp1692Ala) single nucleotide variant Inborn genetic diseases [RCV003204696] Chr1:216084790 [GRCh38]
Chr1:216258132 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12809_12810del (p.Val4270fs) microsatellite Retinitis pigmentosa 39 [RCV003153233] Chr1:215675101..215675102 [GRCh38]
Chr1:215848443..215848444 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3718del (p.Gln1240fs) deletion Retinitis pigmentosa 39 [RCV003164465] Chr1:216199720 [GRCh38]
Chr1:216373062 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11367A>G (p.Ile3789Met) single nucleotide variant not provided [RCV003221718] Chr1:215758617 [GRCh38]
Chr1:215931959 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2336C>A (p.Thr779Asn) single nucleotide variant Inborn genetic diseases [RCV003206509] Chr1:216247058 [GRCh38]
Chr1:216420400 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9527C>A (p.Pro3176His) single nucleotide variant Inborn genetic diseases [RCV003219301] Chr1:215817040 [GRCh38]
Chr1:215990382 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2302T>C (p.Cys768Arg) single nucleotide variant Usher syndrome [RCV003324683] Chr1:216247092 [GRCh38]
Chr1:216420434 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.7595-3_7596delinsGAGAG indel not provided [RCV003319612] Chr1:215889053..215889057 [GRCh38]
Chr1:216062395..216062399 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1646G>A (p.Cys549Tyr) single nucleotide variant not provided [RCV003324930] Chr1:216292369 [GRCh38]
Chr1:216465711 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr) single nucleotide variant Usher syndrome [RCV003324682] Chr1:215648687 [GRCh38]
Chr1:215822029 [GRCh37]
Chr1:1q41
likely pathogenic|uncertain significance
NM_206933.4(USH2A):c.9315del (p.Val3106fs) deletion Usher syndrome [RCV003324684] Chr1:215838047 [GRCh38]
Chr1:216011389 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12218T>C (p.Ile4073Thr) single nucleotide variant not provided [RCV003321317] Chr1:215680225 [GRCh38]
Chr1:215853567 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs) duplication Usher syndrome type 2A [RCV003324609] Chr1:215674394..215674395 [GRCh38]
Chr1:215847736..215847737 [GRCh37]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:216190126-216251196)x1 copy number loss Usher syndrome type 2A [RCV003327669] Chr1:216190126..216251196 [GRCh38]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14407_14420delinsTCA (p.Ile4803fs) indel not provided [RCV003328914] Chr1:215648690..215648703 [GRCh38]
Chr1:215822032..215822045 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12403T>G (p.Cys4135Gly) single nucleotide variant not provided [RCV003325887] Chr1:215675508 [GRCh38]
Chr1:215848850 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5399G>T (p.Trp1800Leu) single nucleotide variant not provided [RCV003686469] Chr1:216078262 [GRCh38]
Chr1:216251604 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15574A>G (p.Lys5192Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003340792] Chr1:215625816 [GRCh38]
Chr1:215799158 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1723T>A (p.Cys575Ser) single nucleotide variant not specified [RCV003331766] Chr1:216292292 [GRCh38]
Chr1:216465634 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1651C>T (p.Arg551Cys) single nucleotide variant not provided [RCV003332439] Chr1:216292364 [GRCh38]
Chr1:216465706 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.418C>T (p.Pro140Ser) single nucleotide variant not provided [RCV003332564] Chr1:216421919 [GRCh38]
Chr1:216595261 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys) single nucleotide variant not specified [RCV003332022] Chr1:215680182 [GRCh38]
Chr1:215853524 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14269G>A (p.Ala4757Thr) single nucleotide variant Inborn genetic diseases [RCV003376082] Chr1:215650666 [GRCh38]
Chr1:215824008 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.335A>G (p.Asp112Gly) single nucleotide variant Inborn genetic diseases [RCV003381737] Chr1:216422002 [GRCh38]
Chr1:216595344 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser) single nucleotide variant Inborn genetic diseases [RCV003376930] Chr1:215998960 [GRCh38]
Chr1:216172302 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1349G>T (p.Gly450Val) single nucleotide variant Inborn genetic diseases [RCV003373451] Chr1:216323675 [GRCh38]
Chr1:216497017 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7292C>A (p.Pro2431His) single nucleotide variant Inborn genetic diseases [RCV003348388] Chr1:215934624 [GRCh38]
Chr1:216107966 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.8495T>C (p.Leu2832Pro) single nucleotide variant Inborn genetic diseases [RCV003371132] Chr1:215878827 [GRCh38]
Chr1:216052169 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.1786G>A (p.Glu596Lys) single nucleotide variant Inborn genetic diseases [RCV003351724] Chr1:216292229 [GRCh38]
Chr1:216465571 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7448T>G (p.Leu2483Arg) single nucleotide variant Inborn genetic diseases [RCV003384967] Chr1:215900758 [GRCh38]
Chr1:216074100 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3891dup (p.Gln1298fs) duplication Retinitis pigmentosa 39 [RCV003464789] Chr1:216198504..216198505 [GRCh38]
Chr1:216371846..216371847 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14591_14594dup (p.Gln4865fs) duplication Retinitis pigmentosa 39 [RCV003464797] Chr1:215647718..215647719 [GRCh38]
Chr1:215821060..215821061 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12987T>A (p.Tyr4329Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464798] Chr1:215674924 [GRCh38]
Chr1:215848266 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13208del (p.Gly4403fs) deletion Retinitis pigmentosa 39 [RCV003464802] Chr1:215674703 [GRCh38]
Chr1:215848045 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10643C>A (p.Ser3548Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464808] Chr1:215782139 [GRCh38]
Chr1:215955481 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14802C>A (p.Tyr4934Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464809] Chr1:215640724 [GRCh38]
Chr1:215814066 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9911T>G (p.Leu3304Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464814] Chr1:215798954 [GRCh38]
Chr1:215972296 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1823G>A (p.Cys608Tyr) single nucleotide variant Retinitis pigmentosa 39 [RCV003464817] Chr1:216292192 [GRCh38]
Chr1:216465534 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14792-1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003464818] Chr1:215640735 [GRCh38]
Chr1:215814077 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8682-3_8682-1delinsAA indel Retinitis pigmentosa 39 [RCV003464822] Chr1:215867171..215867173 [GRCh38]
Chr1:216040513..216040515 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12045del (p.Val4016fs) deletion Retinitis pigmentosa 39 [RCV003464830] Chr1:215728051 [GRCh38]
Chr1:215901393 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14266_14274delinsTG (p.Ser4756fs) indel Retinitis pigmentosa 39 [RCV003464806] Chr1:215650661..215650669 [GRCh38]
Chr1:215824003..215824011 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15112_15115dup (p.Ser5039fs) duplication Retinitis pigmentosa 39 [RCV003464842] Chr1:215634640..215634641 [GRCh38]
Chr1:215807982..215807983 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13515T>A (p.Tyr4505Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464851] Chr1:215674396 [GRCh38]
Chr1:215847738 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5476_5482dup (p.Asp1828fs) duplication Retinitis pigmentosa 39 [RCV003464852] Chr1:216078178..216078179 [GRCh38]
Chr1:216251520..216251521 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14232T>A (p.His4744Gln) single nucleotide variant Inborn genetic diseases [RCV003376336] Chr1:215650703 [GRCh38]
Chr1:215824045 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.588T>G (p.Pro196=) single nucleotide variant not provided [RCV003686259] Chr1:216418577 [GRCh38]
Chr1:216591919 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14709C>T (p.Thr4903=) single nucleotide variant not provided [RCV003543316] Chr1:215647604 [GRCh38]
Chr1:215820946 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3157+1G>A single nucleotide variant not provided [RCV003569479] Chr1:216217386 [GRCh38]
Chr1:216390728 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10953C>G (p.Tyr3651Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474206] Chr1:215766775 [GRCh38]
Chr1:215940117 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14586T>G (p.Tyr4862Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474207] Chr1:215647727 [GRCh38]
Chr1:215821069 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1111_1114del (p.Ile371fs) deletion Retinitis pigmentosa 39 [RCV003474220] Chr1:216325334..216325337 [GRCh38]
Chr1:216498676..216498679 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10634G>C (p.Arg3545Pro) single nucleotide variant not provided [RCV003686460] Chr1:215782148 [GRCh38]
Chr1:215955490 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2145dup (p.Lys716fs) duplication not provided [RCV003571821] Chr1:216250924..216250925 [GRCh38]
Chr1:216424266..216424267 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5776+15dup duplication not provided [RCV003873291] Chr1:216073081..216073082 [GRCh38]
Chr1:216246423..216246424 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-13T>A single nucleotide variant not provided [RCV003873158] Chr1:215671306 [GRCh38]
Chr1:215844648 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474216] Chr1:216072965 [GRCh38]
Chr1:216246307 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10641_10645del (p.Ser3548fs) deletion Retinitis pigmentosa 39 [RCV003474224] Chr1:215782137..215782141 [GRCh38]
Chr1:215955479..215955483 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12519G>C (p.Leu4173=) single nucleotide variant not provided [RCV003571437] Chr1:215675392 [GRCh38]
Chr1:215848734 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7234G>A (p.Val2412Met) single nucleotide variant not specified [RCV003479765] Chr1:215934682 [GRCh38]
Chr1:216108024 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9117C>T (p.Ile3039=) single nucleotide variant not provided [RCV003569819] Chr1:215844435 [GRCh38]
Chr1:216017777 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13052C>T (p.Thr4351Ile) single nucleotide variant not provided [RCV003686347] Chr1:215674859 [GRCh38]
Chr1:215848201 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9768C>T (p.His3256=) single nucleotide variant not provided [RCV003569747] Chr1:215799097 [GRCh38]
Chr1:215972439 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+17_11389+20del deletion not provided [RCV003543408] Chr1:215758575..215758578 [GRCh38]
Chr1:215931917..215931920 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1143+2T>G single nucleotide variant not provided [RCV003543585] Chr1:216325303 [GRCh38]
Chr1:216498645 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12063G>A (p.Val4021=) single nucleotide variant not provided [RCV003569799] Chr1:215728033 [GRCh38]
Chr1:215901375 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10862_10863del (p.Lys3621fs) deletion Retinitis pigmentosa 39 [RCV003464796] Chr1:215779919..215779920 [GRCh38]
Chr1:215953261..215953262 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6084T>A (p.Tyr2028Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464801] Chr1:216048613 [GRCh38]
Chr1:216221955 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5903del (p.Gly1968fs) deletion Retinitis pigmentosa 39 [RCV003464810] Chr1:216070247 [GRCh38]
Chr1:216243589 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13543C>T (p.Gln4515Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464819] Chr1:215674368 [GRCh38]
Chr1:215847710 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3639dup (p.Ala1214fs) duplication Retinitis pigmentosa 39 [RCV003464826] Chr1:216199798..216199799 [GRCh38]
Chr1:216373140..216373141 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1413dup (p.Asn472Ter) duplication Retinitis pigmentosa 39 [RCV003464836] Chr1:216323610..216323611 [GRCh38]
Chr1:216496952..216496953 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9258+2T>C single nucleotide variant Retinitis pigmentosa 39 [RCV003464849] Chr1:215844292 [GRCh38]
Chr1:216017634 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14454del (p.Thr4819fs) deletion Retinitis pigmentosa 39 [RCV003464850] Chr1:215648656 [GRCh38]
Chr1:215821998 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464857] Chr1:215743192 [GRCh38]
Chr1:215916534 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11850_11860del (p.Glu3952fs) deletion Retinitis pigmentosa 39 [RCV003464858] Chr1:215728236..215728246 [GRCh38]
Chr1:215901578..215901588 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7594+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003464855] Chr1:215900074 [GRCh38]
Chr1:216073416 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13683T>C (p.Asp4561=) single nucleotide variant not provided [RCV003570786] Chr1:215674228 [GRCh38]
Chr1:215847570 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11389+14A>G single nucleotide variant not provided [RCV003875003] Chr1:215758581 [GRCh38]
Chr1:215931923 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3736C>T (p.Leu1246=) single nucleotide variant not provided [RCV003543524] Chr1:216199702 [GRCh38]
Chr1:216373044 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10038A>T (p.Ala3346=) single nucleotide variant not provided [RCV003570571] Chr1:215790203 [GRCh38]
Chr1:215963545 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6325+2T>G single nucleotide variant Retinitis pigmentosa 39 [RCV003464787] Chr1:216046429 [GRCh38]
Chr1:216219771 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.811C>T (p.Gln271Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464786] Chr1:216327628 [GRCh38]
Chr1:216500970 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1849del (p.Cys617fs) deletion Retinitis pigmentosa 39 [RCV003464794] Chr1:216289402 [GRCh38]
Chr1:216462744 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2411del (p.Pro804fs) deletion Retinitis pigmentosa 39 [RCV003464795] Chr1:216246983 [GRCh38]
Chr1:216420325 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6283del (p.Arg2095fs) deletion Retinitis pigmentosa 39 [RCV003464812] Chr1:216046473 [GRCh38]
Chr1:216219815 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8223+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003464807] Chr1:215888425 [GRCh38]
Chr1:216061767 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13167_13170del (p.Lys4388_Tyr4389insTer) deletion Retinitis pigmentosa 39 [RCV003464854] Chr1:215674741..215674744 [GRCh38]
Chr1:215848083..215848086 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11813A>G (p.Tyr3938Cys) single nucleotide variant not provided [RCV003570173] Chr1:215728283 [GRCh38]
Chr1:215901625 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9055+20G>C single nucleotide variant not provided [RCV003874668] Chr1:215845804 [GRCh38]
Chr1:216019146 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14968+9C>T single nucleotide variant not provided [RCV003570527] Chr1:215640549 [GRCh38]
Chr1:215813891 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4759-20T>G single nucleotide variant not provided [RCV003543506] Chr1:216089159 [GRCh38]
Chr1:216262501 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2167+12G>C single nucleotide variant not provided [RCV003543508] Chr1:216250891 [GRCh38]
Chr1:216424233 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10939+19A>G single nucleotide variant not provided [RCV003571572] Chr1:215779824 [GRCh38]
Chr1:215953166 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9435C>A (p.Leu3145=) single nucleotide variant not provided [RCV003543512] Chr1:215817132 [GRCh38]
Chr1:215990474 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5254T>C (p.Leu1752=) single nucleotide variant not provided [RCV003543528] Chr1:216083500 [GRCh38]
Chr1:216256842 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6219C>G (p.Leu2073=) single nucleotide variant not provided [RCV003686311] Chr1:216046537 [GRCh38]
Chr1:216219879 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3039del (p.Cys1014fs) deletion not provided [RCV003570925] Chr1:216217505 [GRCh38]
Chr1:216390847 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10812G>A (p.Val3604=) single nucleotide variant not provided [RCV003571578] Chr1:215779970 [GRCh38]
Chr1:215953312 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6486-2A>G single nucleotide variant not provided [RCV003686317] Chr1:215999060 [GRCh38]
Chr1:216172402 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1190T>A (p.Ile397Lys) single nucleotide variant Retinitis pigmentosa 39 [RCV003466505] Chr1:216324306 [GRCh38]
Chr1:216497648 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12417T>C (p.Gly4139=) single nucleotide variant not provided [RCV003569301] Chr1:215675494 [GRCh38]
Chr1:215848836 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4628-14A>G single nucleotide variant not provided [RCV003874643] Chr1:216097227 [GRCh38]
Chr1:216270569 [GRCh37]
Chr1:1q41
likely benign
GRCh37/hg19 1q41(chr1:214853277-222111742)x1 copy number loss not provided [RCV003484033] Chr1:214853277..222111742 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14969-15C>T single nucleotide variant not provided [RCV003568836] Chr1:215639253 [GRCh38]
Chr1:215812595 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9372-12T>G single nucleotide variant not provided [RCV003570560] Chr1:215817207 [GRCh38]
Chr1:215990549 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3811+13G>C single nucleotide variant not provided [RCV003570628] Chr1:216199614 [GRCh38]
Chr1:216372956 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13070C>G (p.Ser4357Ter) single nucleotide variant not provided [RCV003569239] Chr1:215674841 [GRCh38]
Chr1:215848183 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.15132A>T (p.Ile5044=) single nucleotide variant not provided [RCV003569228] Chr1:215634624 [GRCh38]
Chr1:215807966 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15298-13A>C single nucleotide variant not provided [RCV003874850] Chr1:215629048 [GRCh38]
Chr1:215802390 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.770G>T (p.Gly257Val) single nucleotide variant not provided [RCV003543080] Chr1:216364967 [GRCh38]
Chr1:216538309 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11232-1G>C single nucleotide variant not provided [RCV003571183] Chr1:215758753 [GRCh38]
Chr1:215932095 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6741C>G (p.Pro2247=) single nucleotide variant not provided [RCV003543209] Chr1:215993084 [GRCh38]
Chr1:216166426 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.849-14C>G single nucleotide variant not provided [RCV003569136] Chr1:216325613 [GRCh38]
Chr1:216498955 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12560G>C (p.Arg4187Pro) single nucleotide variant not provided [RCV003570679] Chr1:215675351 [GRCh38]
Chr1:215848693 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9055+19G>A single nucleotide variant not provided [RCV003569015] Chr1:215845805 [GRCh38]
Chr1:216019147 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3663_3664dup (p.Ala1222fs) duplication Retinitis pigmentosa 39 [RCV003466516] Chr1:216199773..216199774 [GRCh38]
Chr1:216373115..216373116 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7059del (p.Arg2354fs) deletion Retinitis pigmentosa 39 [RCV003466508] Chr1:215965378 [GRCh38]
Chr1:216138720 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.3811+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003466520] Chr1:216199626 [GRCh38]
Chr1:216372968 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6416dup (p.Gln2140fs) duplication Retinitis pigmentosa 39 [RCV003466523] Chr1:216000471..216000472 [GRCh38]
Chr1:216173813..216173814 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs) microsatellite Retinitis pigmentosa 39 [RCV003466534] Chr1:215817178..215817181 [GRCh38]
Chr1:215990520..215990523 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1527G>A (p.Val509=) single nucleotide variant not provided [RCV003571275] Chr1:216323497 [GRCh38]
Chr1:216496839 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4885+4A>T single nucleotide variant not provided [RCV003571402] Chr1:216089009 [GRCh38]
Chr1:216262351 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.10182+16G>A single nucleotide variant not provided [RCV003875181] Chr1:215790043 [GRCh38]
Chr1:215963385 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7470T>C (p.Ser2490=) single nucleotide variant not provided [RCV003571313] Chr1:215900199 [GRCh38]
Chr1:216073541 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10940-5T>C single nucleotide variant not provided [RCV003875448] Chr1:215766793 [GRCh38]
Chr1:215940135 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6837T>C (p.Asp2279=) single nucleotide variant not provided [RCV003571808] Chr1:215970745 [GRCh38]
Chr1:216144087 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12737C>A (p.Ala4246Asp) single nucleotide variant not provided [RCV003569448] Chr1:215675174 [GRCh38]
Chr1:215848516 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4184del (p.Val1395fs) deletion not provided [RCV003543626] Chr1:216196620 [GRCh38]
Chr1:216369962 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12993T>C (p.Tyr4331=) single nucleotide variant not provided [RCV003569224] Chr1:215674918 [GRCh38]
Chr1:215848260 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11232-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003474210] Chr1:215758754 [GRCh38]
Chr1:215932096 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14133+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003474219] Chr1:215670971 [GRCh38]
Chr1:215844313 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1279_1280del (p.Asn427fs) deletion Retinitis pigmentosa 39 [RCV003474218] Chr1:216324216..216324217 [GRCh38]
Chr1:216497558..216497559 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1479del (p.Tyr494fs) deletion Retinitis pigmentosa 39 [RCV003474214] Chr1:216323545 [GRCh38]
Chr1:216496887 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5147dup (p.Ala1717fs) duplication Retinitis pigmentosa 39 [RCV003474230] Chr1:216084717..216084718 [GRCh38]
Chr1:216258059..216258060 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6326-12C>A single nucleotide variant not provided [RCV003569472] Chr1:216000574 [GRCh38]
Chr1:216173916 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1134_1143+1del deletion Retinitis pigmentosa 39 [RCV003474233] Chr1:216325304..216325314 [GRCh38]
Chr1:216498646..216498656 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4585A>T (p.Lys1529Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474229] Chr1:216175294 [GRCh38]
Chr1:216348636 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12471_12472del (p.Gln4158fs) microsatellite Retinitis pigmentosa 39 [RCV003474222] Chr1:215675439..215675440 [GRCh38]
Chr1:215848781..215848782 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10984dup (p.Thr3662fs) duplication Retinitis pigmentosa 39 [RCV003466503] Chr1:215766743..215766744 [GRCh38]
Chr1:215940085..215940086 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6193A>T (p.Lys2065Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466506] Chr1:216046563 [GRCh38]
Chr1:216219905 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6569G>A (p.Trp2190Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466514] Chr1:215998975 [GRCh38]
Chr1:216172317 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466518] Chr1:215844432 [GRCh38]
Chr1:216017774 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3615_3618dup (p.Ile1207fs) duplication Retinitis pigmentosa 39 [RCV003466519] Chr1:216199819..216199820 [GRCh38]
Chr1:216373161..216373162 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.633G>A (p.Trp211Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466526] Chr1:216418532 [GRCh38]
Chr1:216591874 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.10645C>T (p.Leu3549=) single nucleotide variant not provided [RCV003568963] Chr1:215782137 [GRCh38]
Chr1:215955479 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15053-2A>G single nucleotide variant Retinitis pigmentosa 39 [RCV003474225] Chr1:215634705 [GRCh38]
Chr1:215808047 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11730del (p.Glu3911fs) deletion Retinitis pigmentosa 39 [RCV003474209] Chr1:215728366 [GRCh38]
Chr1:215901708 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14811del (p.Ser4939fs) deletion Retinitis pigmentosa 39 [RCV003474211] Chr1:215640715 [GRCh38]
Chr1:215814057 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4396+1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003474227] Chr1:216190222 [GRCh38]
Chr1:216363564 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13856C>G (p.Ser4619Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474226] Chr1:215671249 [GRCh38]
Chr1:215844591 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4945G>T (p.Gly1649Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464800] Chr1:216086761 [GRCh38]
Chr1:216260103 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5168G>A (p.Gly1723Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003464792] Chr1:216083586 [GRCh38]
Chr1:216256928 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5933del (p.Pro1978fs) deletion Retinitis pigmentosa 39 [RCV003464785] Chr1:216070217 [GRCh38]
Chr1:216243559 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.8559-1G>C single nucleotide variant Retinitis pigmentosa 39 [RCV003464782] Chr1:215877881 [GRCh38]
Chr1:216051223 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6269T>G (p.Leu2090Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464813] Chr1:216046487 [GRCh38]
Chr1:216219829 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8386_8389del (p.Cys2796fs) microsatellite Retinitis pigmentosa 39 [RCV003464824] Chr1:215878933..215878936 [GRCh38]
Chr1:216052275..216052278 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2989G>T (p.Gly997Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464825] Chr1:216231957 [GRCh38]
Chr1:216405299 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9894_9895del (p.Gln3298fs) deletion Retinitis pigmentosa 39 [RCV003464829] Chr1:215798970..215798971 [GRCh38]
Chr1:215972312..215972313 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.10165del (p.Thr3389fs) deletion Retinitis pigmentosa 39 [RCV003464838] Chr1:215790076 [GRCh38]
Chr1:215963418 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464839] Chr1:215845973 [GRCh38]
Chr1:216019315 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12172_12174delinsTAAA (p.Leu4058Ter) indel Retinitis pigmentosa 39 [RCV003464831] Chr1:215680269..215680271 [GRCh38]
Chr1:215853611..215853613 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14537C>T (p.Ser4846Phe) single nucleotide variant Usher syndrome [RCV003389528] Chr1:215648573 [GRCh38]
Chr1:215821915 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9945dup (p.Asn3316fs) duplication Usher syndrome [RCV003389548] Chr1:215798919..215798920 [GRCh38]
Chr1:215972261..215972262 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14990G>A (p.Cys4997Tyr) single nucleotide variant Usher syndrome [RCV003389541] Chr1:215639217 [GRCh38]
Chr1:215812559 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13654T>C (p.Trp4552Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003389613] Chr1:215674257 [GRCh38]
Chr1:215847599 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8626T>A (p.Trp2876Arg) single nucleotide variant not provided [RCV003481586] Chr1:215877813 [GRCh38]
Chr1:216051155 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3502dup (p.Thr1168fs) duplication Retinitis pigmentosa 39 [RCV003466511] Chr1:216199935..216199936 [GRCh38]
Chr1:216373277..216373278 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3222G>A (p.Trp1074Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466522] Chr1:216207367 [GRCh38]
Chr1:216380709 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12446G>A (p.Trp4149Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466499] Chr1:215675465 [GRCh38]
Chr1:215848807 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14967_14968del (p.Lys4989fs) deletion Retinitis pigmentosa 39 [RCV003466510] Chr1:215640558..215640559 [GRCh38]
Chr1:215813900..215813901 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3811+2T>A single nucleotide variant Retinitis pigmentosa 39 [RCV003466512] Chr1:216199625 [GRCh38]
Chr1:216372967 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1549del (p.Arg517fs) deletion Retinitis pigmentosa 39 [RCV003466530] Chr1:216323475 [GRCh38]
Chr1:216496817 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7018C>T (p.Gln2340Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466531] Chr1:215965419 [GRCh38]
Chr1:216138761 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13288_13292del (p.Cys4429_Thr4430insTer) deletion Retinitis pigmentosa 39 [RCV003466528] Chr1:215674619..215674623 [GRCh38]
Chr1:215847961..215847965 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2310dup (p.Glu771fs) duplication Retinitis pigmentosa 39 [RCV003464793] Chr1:216247083..216247084 [GRCh38]
Chr1:216420425..216420426 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.11884G>T (p.Glu3962Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464790] Chr1:215728212 [GRCh38]
Chr1:215901554 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7788_7799delinsA (p.Tyr2596_Val2600delinsTer) indel Retinitis pigmentosa 39 [RCV003464799] Chr1:215888850..215888861 [GRCh38]
Chr1:216062192..216062203 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.12086dup (p.His4029fs) duplication Retinitis pigmentosa 39 [RCV003464803] Chr1:215680356..215680357 [GRCh38]
Chr1:215853698..215853699 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4478del (p.Leu1493fs) deletion Retinitis pigmentosa 39 [RCV003464804] Chr1:216175401 [GRCh38]
Chr1:216348743 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464811] Chr1:215999024 [GRCh38]
Chr1:216172366 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.14893_14900del (p.Val4965fs) deletion Retinitis pigmentosa 39 [RCV003464832] Chr1:215640626..215640633 [GRCh38]
Chr1:215813968..215813975 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13189G>T (p.Glu4397Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464837] Chr1:215674722 [GRCh38]
Chr1:215848064 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs) deletion Retinitis pigmentosa 39 [RCV003464847] Chr1:215650631..215650652 [GRCh38]
Chr1:215823973..215823994 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14_15insAAGG (p.Leu6fs) insertion Retinitis pigmentosa 39 [RCV003464848] Chr1:216422322..216422323 [GRCh38]
Chr1:216595664..216595665 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1934_1935del (p.Thr645fs) deletion Retinitis pigmentosa 39 [RCV003464856] Chr1:216289316..216289317 [GRCh38]
Chr1:216462658..216462659 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3932C>A (p.Ser1311Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466509] Chr1:216198464 [GRCh38]
Chr1:216371806 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7037A>G (p.His2346Arg) single nucleotide variant Retinitis pigmentosa 39 [RCV003466502] Chr1:215965400 [GRCh38]
Chr1:216138742 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9650dup (p.Asn3217fs) duplication Retinitis pigmentosa 39 [RCV003466524] Chr1:215813824..215813825 [GRCh38]
Chr1:215987166..215987167 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3266T>A (p.Leu1089Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466529] Chr1:216207323 [GRCh38]
Chr1:216380665 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3523C>T (p.Gln1175Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466532] Chr1:216199915 [GRCh38]
Chr1:216373257 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9723C>A (p.Tyr3241Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474212] Chr1:215813752 [GRCh38]
Chr1:215987094 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.652-1G>A single nucleotide variant Retinitis pigmentosa 39 [RCV003474232] Chr1:216365086 [GRCh38]
Chr1:216538428 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.144del (p.Val49fs) deletion Retinitis pigmentosa 39 [RCV003474231] Chr1:216422193 [GRCh38]
Chr1:216595535 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11120del (p.Lys3707fs) deletion Retinitis pigmentosa 39 [RCV003474215] Chr1:215759771 [GRCh38]
Chr1:215933113 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14804_14808del (p.Arg4935fs) deletion Retinitis pigmentosa 39 [RCV003466515] Chr1:215640718..215640722 [GRCh38]
Chr1:215814060..215814064 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9846T>A (p.Cys3282Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466521] Chr1:215799019 [GRCh38]
Chr1:215972361 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7305dup (p.Asp2436fs) duplication Retinitis pigmentosa 39 [RCV003466525] Chr1:215900900..215900901 [GRCh38]
Chr1:216074242..216074243 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466533] Chr1:215741530 [GRCh38]
Chr1:215914872 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8324T>G (p.Val2775Gly) single nucleotide variant Usher syndrome [RCV003389529] Chr1:215878998 [GRCh38]
Chr1:216052340 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.5288A>T (p.Asp1763Val) single nucleotide variant Usher syndrome [RCV003389555] Chr1:216083466 [GRCh38]
Chr1:216256808 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3895A>G (p.Ser1299Gly) single nucleotide variant not specified [RCV003405131] Chr1:216198501 [GRCh38]
Chr1:216371843 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12599G>A (p.Trp4200Ter) single nucleotide variant Usher syndrome [RCV003389538] Chr1:215675312 [GRCh38]
Chr1:215848654 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4667T>A (p.Leu1556Ter) single nucleotide variant Usher syndrome [RCV003389542] Chr1:216097174 [GRCh38]
Chr1:216270516 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1106T>A (p.Val369Glu) single nucleotide variant Retinitis pigmentosa 39 [RCV003389586] Chr1:216325342 [GRCh38]
Chr1:216498684 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu) single nucleotide variant not specified [RCV003388466] Chr1:215680339 [GRCh38]
Chr1:215853681 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.4125_4126insA (p.Tyr1376fs) insertion Retinitis pigmentosa 39 [RCV003474205] Chr1:216196678..216196679 [GRCh38]
Chr1:216370020..216370021 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.12984del (p.Tyr4329fs) deletion Retinitis pigmentosa 39 [RCV003474213] Chr1:215674927 [GRCh38]
Chr1:215848269 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4774del (p.Glu1591_Val1592insTer) deletion Retinitis pigmentosa 39 [RCV003474223] Chr1:216089124 [GRCh38]
Chr1:216262466 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.2647G>T (p.Glu883Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474208] Chr1:216246747 [GRCh38]
Chr1:216420089 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15053-5_15059del deletion Retinitis pigmentosa 39 [RCV003474221] Chr1:215634697..215634708 [GRCh38]
Chr1:215808039..215808050 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7843C>T (p.Gln2615Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474217] Chr1:215888806 [GRCh38]
Chr1:216062148 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8500G>T (p.Glu2834Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003474228] Chr1:215878822 [GRCh38]
Chr1:216052164 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1743del (p.Ser583fs) deletion USH2A-related condition [RCV003408552] Chr1:216292272 [GRCh38]
Chr1:216465614 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11639C>A (p.Ser3880Ter) single nucleotide variant Usher syndrome [RCV003389559] Chr1:215741447 [GRCh38]
Chr1:215914789 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4409del (p.Leu1470fs) deletion Usher syndrome type 2A [RCV003388857] Chr1:216175470 [GRCh38]
Chr1:216348812 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.9249T>A (p.Tyr3083Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466501] Chr1:215844303 [GRCh38]
Chr1:216017645 [GRCh37]
Chr1:1q41
pathogenic|likely pathogenic
NM_206933.4(USH2A):c.15388_15389del (p.Asn5130fs) deletion Retinitis pigmentosa 39 [RCV003466507] Chr1:215628944..215628945 [GRCh38]
Chr1:215802286..215802287 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3828T>A (p.Tyr1276Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466535] Chr1:216198568 [GRCh38]
Chr1:216371910 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7950del (p.Asn2651fs) deletion Retinitis pigmentosa 39 [RCV003466517] Chr1:215888699 [GRCh38]
Chr1:216062041 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11039C>T (p.Ala3680Val) single nucleotide variant not provided [RCV003443972] Chr1:215766689 [GRCh38]
Chr1:215940031 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.7795C>T (p.Gln2599Ter) single nucleotide variant Usher syndrome [RCV003389540] Chr1:215888854 [GRCh38]
Chr1:216062196 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.850G>T (p.Glu284Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003466504] Chr1:216325598 [GRCh38]
Chr1:216498940 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.374del (p.Ala125fs) deletion Retinitis pigmentosa 39 [RCV003466513] Chr1:216421963 [GRCh38]
Chr1:216595305 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11787_11799del (p.Asp3930fs) deletion Retinitis pigmentosa 39 [RCV003466500] Chr1:215728297..215728309 [GRCh38]
Chr1:215901639..215901651 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15126_15135del (p.Trp5042fs) deletion Retinitis pigmentosa 39 [RCV003466527] Chr1:215634621..215634630 [GRCh38]
Chr1:215807963..215807972 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.4873G>A (p.Gly1625Arg) single nucleotide variant USH2A-related condition [RCV003404546] Chr1:216089025 [GRCh38]
Chr1:216262367 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.263_340del (p.Cys88_Asn114delinsTyr) deletion Usher syndrome [RCV003389518] Chr1:216421997..216422074 [GRCh38]
Chr1:216595339..216595416 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4361_4371del (p.Thr1454fs) deletion Usher syndrome [RCV003389524] Chr1:216190248..216190258 [GRCh38]
Chr1:216363590..216363600 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1636G>T (p.Gly546Ter) single nucleotide variant Usher syndrome [RCV003389532] Chr1:216321891 [GRCh38]
Chr1:216495233 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.5588dup (p.Met1863fs) duplication Usher syndrome [RCV003389539] Chr1:216073284..216073285 [GRCh38]
Chr1:216246626..216246627 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.956G>T (p.Cys319Phe) single nucleotide variant Usher syndrome [RCV003389547] Chr1:216325492 [GRCh38]
Chr1:216498834 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.7871del (p.Pro2624fs) deletion Usher syndrome [RCV003389549] Chr1:215888778 [GRCh38]
Chr1:216062120 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1384A>T (p.Asn462Tyr) single nucleotide variant not provided [RCV003414771] Chr1:216323640 [GRCh38]
Chr1:216496982 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2440C>T (p.Gln814Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464805] Chr1:216246954 [GRCh38]
Chr1:216420296 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.14969-49_15001delinsAA indel Retinitis pigmentosa 39 [RCV003464791] Chr1:215639206..215639287 [GRCh38]
Chr1:215812548..215812629 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.14802C>G (p.Tyr4934Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464788] Chr1:215640724 [GRCh38]
Chr1:215814066 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.12505_12506del (p.Thr4169fs) deletion Retinitis pigmentosa 39 [RCV003464784] Chr1:215675405..215675406 [GRCh38]
Chr1:215848747..215848748 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.89T>A (p.Leu30Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464783] Chr1:216422248 [GRCh38]
Chr1:216595590 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4225C>T (p.Gln1409Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464833] Chr1:216196579 [GRCh38]
Chr1:216369921 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8557del (p.Arg2853fs) deletion Retinitis pigmentosa 39 [RCV003464815] Chr1:215878765 [GRCh38]
Chr1:216052107 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11447dup (p.Thr3817fs) duplication Retinitis pigmentosa 39 [RCV003464816] Chr1:215743277..215743278 [GRCh38]
Chr1:215916619..215916620 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13301C>G (p.Ser4434Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464820] Chr1:215674610 [GRCh38]
Chr1:215847952 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1421dup (p.Ser475fs) duplication Retinitis pigmentosa 39 [RCV003464821] Chr1:216323602..216323603 [GRCh38]
Chr1:216496944..216496945 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.3811+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003464827] Chr1:216199626 [GRCh38]
Chr1:216372968 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6657+2T>C single nucleotide variant Retinitis pigmentosa 39 [RCV003464828] Chr1:215998885 [GRCh38]
Chr1:216172227 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6516del (p.Leu2173fs) deletion Retinitis pigmentosa 39 [RCV003464834] Chr1:215999028 [GRCh38]
Chr1:216172370 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1927_1934del (p.Cys643fs) deletion Retinitis pigmentosa 39 [RCV003464835] Chr1:216289317..216289324 [GRCh38]
Chr1:216462659..216462666 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.486-4_486-2del deletion Retinitis pigmentosa 39 [RCV003464840] Chr1:216418681..216418683 [GRCh38]
Chr1:216592023..216592025 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1062G>A (p.Trp354Ter) single nucleotide variant Retinitis pigmentosa 39 [RCV003464843] Chr1:216325386 [GRCh38]
Chr1:216498728 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.8668_8669dup (p.Gly2891fs) duplication Retinitis pigmentosa 39 [RCV003464844] Chr1:215877769..215877770 [GRCh38]
Chr1:216051111..216051112 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6657+1G>T single nucleotide variant Retinitis pigmentosa 39 [RCV003464845] Chr1:215998886 [GRCh38]
Chr1:216172228 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.15298-2A>C single nucleotide variant Retinitis pigmentosa 39 [RCV003464846] Chr1:215629037 [GRCh38]
Chr1:215802379 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.11833_11835delinsGGGTCAG (p.Cys3945fs) indel Retinitis pigmentosa 39 [RCV003464853] Chr1:215728261..215728263 [GRCh38]
Chr1:215901603..215901605 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.5376G>T (p.Gly1792=) single nucleotide variant not provided [RCV003414770] Chr1:216078285 [GRCh38]
Chr1:216251627 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13713A>G (p.Glu4571=) single nucleotide variant not provided [RCV003414769] Chr1:215674198 [GRCh38]
Chr1:215847540 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15327T>G (p.Ser5109=) single nucleotide variant not provided [RCV003414768] Chr1:215629006 [GRCh38]
Chr1:215802348 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4628-2A>T single nucleotide variant Retinitis pigmentosa 39 [RCV003459863]|not provided [RCV003442367] Chr1:216097215 [GRCh38]
Chr1:216270557 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1064T>C (p.Val355Ala) single nucleotide variant not specified [RCV003388427] Chr1:216325384 [GRCh38]
Chr1:216498726 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.2601A>G (p.Gln867=) single nucleotide variant not provided [RCV003714398] Chr1:216246793 [GRCh38]
Chr1:216420135 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9055+15T>G single nucleotide variant not provided [RCV003662607] Chr1:215845809 [GRCh38]
Chr1:216019151 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3906G>A (p.Trp1302Ter) single nucleotide variant not provided [RCV003544355] Chr1:216198490 [GRCh38]
Chr1:216371832 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2841C>A (p.Gly947=) single nucleotide variant not provided [RCV003572704] Chr1:216232105 [GRCh38]
Chr1:216405447 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10940-14C>G single nucleotide variant not provided [RCV003716113] Chr1:215766802 [GRCh38]
Chr1:215940144 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13392G>T (p.Trp4464Cys) single nucleotide variant not provided [RCV003574274] Chr1:215674519 [GRCh38]
Chr1:215847861 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14775C>T (p.Phe4925=) single nucleotide variant not provided [RCV003575799] Chr1:215647538 [GRCh38]
Chr1:215820880 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1371G>T (p.Leu457=) single nucleotide variant not provided [RCV003714059] Chr1:216323653 [GRCh38]
Chr1:216496995 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13699C>G (p.Leu4567Val) single nucleotide variant not provided [RCV003824941] Chr1:215674212 [GRCh38]
Chr1:215847554 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13137C>T (p.Pro4379=) single nucleotide variant not provided [RCV003575885] Chr1:215674774 [GRCh38]
Chr1:215848116 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6060A>G (p.Thr2020=) single nucleotide variant not provided [RCV003686694] Chr1:216048637 [GRCh38]
Chr1:216221979 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+13G>A single nucleotide variant not provided [RCV003825093] Chr1:215798894 [GRCh38]
Chr1:215972236 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5808A>G (p.Glu1936=) single nucleotide variant not provided [RCV003716721] Chr1:216072938 [GRCh38]
Chr1:216246280 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3317-7A>C single nucleotide variant not provided [RCV003875985] Chr1:216200128 [GRCh38]
Chr1:216373470 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14991C>T (p.Cys4997=) single nucleotide variant not provided [RCV003689502] Chr1:215639216 [GRCh38]
Chr1:215812558 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8829G>T (p.Val2943=) single nucleotide variant not provided [RCV003690544] Chr1:215867023 [GRCh38]
Chr1:216040365 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13812-20T>G single nucleotide variant not provided [RCV003712886] Chr1:215671313 [GRCh38]
Chr1:215844655 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5069C>G (p.Pro1690Arg) single nucleotide variant not provided [RCV003713506] Chr1:216084796 [GRCh38]
Chr1:216258138 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15052+15T>A single nucleotide variant not provided [RCV003663548] Chr1:215639140 [GRCh38]
Chr1:215812482 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3375T>A (p.Ile1125=) single nucleotide variant not provided [RCV003714351] Chr1:216200063 [GRCh38]
Chr1:216373405 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14346A>G (p.Leu4782=) single nucleotide variant not provided [RCV003714966] Chr1:215648764 [GRCh38]
Chr1:215822106 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+8T>C single nucleotide variant not provided [RCV003544174] Chr1:215877750 [GRCh38]
Chr1:216051092 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3157+15G>A single nucleotide variant not provided [RCV003714346] Chr1:216217372 [GRCh38]
Chr1:216390714 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12295-12G>A single nucleotide variant not provided [RCV003574258] Chr1:215675628 [GRCh38]
Chr1:215848970 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1329-14T>A single nucleotide variant not provided [RCV003687502] Chr1:216323709 [GRCh38]
Chr1:216497051 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14969-5T>C single nucleotide variant not provided [RCV003661234] Chr1:215639243 [GRCh38]
Chr1:215812585 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4759-14T>C single nucleotide variant not provided [RCV003714397] Chr1:216089153 [GRCh38]
Chr1:216262495 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.609G>A (p.Leu203=) single nucleotide variant not provided [RCV003574368] Chr1:216418556 [GRCh38]
Chr1:216591898 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15261T>G (p.Ser5087=) single nucleotide variant not provided [RCV003687478] Chr1:215634495 [GRCh38]
Chr1:215807837 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11821C>A (p.Arg3941=) single nucleotide variant not provided [RCV003547067] Chr1:215728275 [GRCh38]
Chr1:215901617 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5095C>T (p.Gln1699Ter) single nucleotide variant not provided [RCV003663221] Chr1:216084770 [GRCh38]
Chr1:216258112 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2168-19A>T single nucleotide variant not provided [RCV003544340] Chr1:216247245 [GRCh38]
Chr1:216420587 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3141A>T (p.Leu1047=) single nucleotide variant not provided [RCV003688293] Chr1:216217403 [GRCh38]
Chr1:216390745 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8845+18A>G single nucleotide variant not provided [RCV003878953] Chr1:215866989 [GRCh38]
Chr1:216040331 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-20C>A single nucleotide variant not provided [RCV003716361] Chr1:216190387 [GRCh38]
Chr1:216363729 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12402C>G (p.Ala4134=) single nucleotide variant not provided [RCV003713128] Chr1:215675509 [GRCh38]
Chr1:215848851 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.717A>C (p.Ala239=) single nucleotide variant not provided [RCV003688325] Chr1:216365020 [GRCh38]
Chr1:216538362 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4191T>C (p.Tyr1397=) single nucleotide variant not provided [RCV003546419] Chr1:216196613 [GRCh38]
Chr1:216369955 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9571-6T>G single nucleotide variant not provided [RCV003690143] Chr1:215813910 [GRCh38]
Chr1:215987252 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5880C>T (p.Pro1960=) single nucleotide variant not provided [RCV003688333] Chr1:216070270 [GRCh38]
Chr1:216243612 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14288G>T (p.Gly4763Val) single nucleotide variant not provided [RCV003715916] Chr1:215650647 [GRCh38]
Chr1:215823989 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.848+9A>G single nucleotide variant not provided [RCV003687016] Chr1:216327582 [GRCh38]
Chr1:216500924 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13224T>G (p.Val4408=) single nucleotide variant not provided [RCV003715215] Chr1:215674687 [GRCh38]
Chr1:215848029 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-12_4252-9del deletion not provided [RCV003714005] Chr1:216190376..216190379 [GRCh38]
Chr1:216363718..216363721 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2194G>T (p.Gly732Ter) single nucleotide variant not provided [RCV003688489] Chr1:216247200 [GRCh38]
Chr1:216420542 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9543A>T (p.Gly3181=) single nucleotide variant not provided [RCV003689198] Chr1:215817024 [GRCh38]
Chr1:215990366 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3428C>A (p.Thr1143Lys) single nucleotide variant not provided [RCV003547367] Chr1:216200010 [GRCh38]
Chr1:216373352 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.12654T>G (p.Thr4218=) single nucleotide variant not provided [RCV003714029] Chr1:215675257 [GRCh38]
Chr1:215848599 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2167+20T>C single nucleotide variant not provided [RCV003686577] Chr1:216250883 [GRCh38]
Chr1:216424225 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5572+12C>A single nucleotide variant not provided [RCV003876004] Chr1:216078077 [GRCh38]
Chr1:216251419 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1841-17A>C single nucleotide variant not provided [RCV003688605] Chr1:216289427 [GRCh38]
Chr1:216462769 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12045C>G (p.Thr4015=) single nucleotide variant not provided [RCV003715417] Chr1:215728051 [GRCh38]
Chr1:215901393 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9879G>A (p.Lys3293=) single nucleotide variant not provided [RCV003547905] Chr1:215798986 [GRCh38]
Chr1:215972328 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4759-5T>A single nucleotide variant not provided [RCV003712700] Chr1:216089144 [GRCh38]
Chr1:216262486 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6522A>G (p.Glu2174=) single nucleotide variant not provided [RCV003689372] Chr1:215999022 [GRCh38]
Chr1:216172364 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11928G>T (p.Thr3976=) single nucleotide variant not provided [RCV003574074] Chr1:215728168 [GRCh38]
Chr1:215901510 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9056-15T>C single nucleotide variant not provided [RCV003662330] Chr1:215844511 [GRCh38]
Chr1:216017853 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8328_8329del (p.Gln2778fs) deletion not provided [RCV003544742] Chr1:215878993..215878994 [GRCh38]
Chr1:216052335..216052336 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4411A>C (p.Arg1471=) single nucleotide variant not provided [RCV003714296] Chr1:216175468 [GRCh38]
Chr1:216348810 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12507C>T (p.Thr4169=) single nucleotide variant not provided [RCV003715633] Chr1:215675404 [GRCh38]
Chr1:215848746 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13956T>G (p.Thr4652=) single nucleotide variant not provided [RCV003687643] Chr1:215671149 [GRCh38]
Chr1:215844491 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12510T>C (p.Ser4170=) single nucleotide variant not provided [RCV003662203] Chr1:215675401 [GRCh38]
Chr1:215848743 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12295-10C>T single nucleotide variant not provided [RCV003662791] Chr1:215675626 [GRCh38]
Chr1:215848968 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9339A>T (p.Ile3113=) single nucleotide variant not provided [RCV003716505] Chr1:215838023 [GRCh38]
Chr1:216011365 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7121-15T>G single nucleotide variant not provided [RCV003687753] Chr1:215934810 [GRCh38]
Chr1:216108152 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3900T>C (p.Ser1300=) single nucleotide variant not provided [RCV003716617] Chr1:216198496 [GRCh38]
Chr1:216371838 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1842A>G (p.Gly614=) single nucleotide variant not provided [RCV003547925] Chr1:216289409 [GRCh38]
Chr1:216462751 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4117dup (p.Leu1373fs) duplication not provided [RCV003571959] Chr1:216196686..216196687 [GRCh38]
Chr1:216370028..216370029 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4919T>G (p.Ile1640Ser) single nucleotide variant not provided [RCV003712658] Chr1:216086787 [GRCh38]
Chr1:216260129 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13911T>G (p.Pro4637=) single nucleotide variant not provided [RCV003686466] Chr1:215671194 [GRCh38]
Chr1:215844536 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3723C>A (p.Ala1241=) single nucleotide variant not provided [RCV003545999] Chr1:216199715 [GRCh38]
Chr1:216373057 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14582+13G>A single nucleotide variant not provided [RCV003715495] Chr1:215648515 [GRCh38]
Chr1:215821857 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1083C>T (p.Asn361=) single nucleotide variant not provided [RCV003690505] Chr1:216325365 [GRCh38]
Chr1:216498707 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5701A>C (p.Arg1901=) single nucleotide variant not provided [RCV003543936] Chr1:216073172 [GRCh38]
Chr1:216246514 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7245A>G (p.Ser2415=) single nucleotide variant not provided [RCV003686525] Chr1:215934671 [GRCh38]
Chr1:216108013 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9642dup (p.Val3215fs) duplication not provided [RCV003575568] Chr1:215813832..215813833 [GRCh38]
Chr1:215987174..215987175 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13812-11A>G single nucleotide variant not provided [RCV003712885] Chr1:215671304 [GRCh38]
Chr1:215844646 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5985C>T (p.Asp1995=) single nucleotide variant not provided [RCV003879426] Chr1:216070165 [GRCh38]
Chr1:216243507 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7227T>A (p.Thr2409=) single nucleotide variant not provided [RCV003688547] Chr1:215934689 [GRCh38]
Chr1:216108031 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.576T>C (p.Asn192=) single nucleotide variant not provided [RCV003689466] Chr1:216418589 [GRCh38]
Chr1:216591931 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7083C>T (p.His2361=) single nucleotide variant not provided [RCV003690531] Chr1:215965354 [GRCh38]
Chr1:216138696 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6210T>C (p.Ser2070=) single nucleotide variant not provided [RCV003687259] Chr1:216046546 [GRCh38]
Chr1:216219888 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6474T>G (p.Thr2158=) single nucleotide variant not provided [RCV003687268] Chr1:216000414 [GRCh38]
Chr1:216173756 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.168A>C (p.Ala56=) single nucleotide variant not provided [RCV003714242] Chr1:216422169 [GRCh38]
Chr1:216595511 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4599C>T (p.Ser1533=) single nucleotide variant not provided [RCV003659916] Chr1:216175280 [GRCh38]
Chr1:216348622 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9942G>A (p.Val3314=) single nucleotide variant not provided [RCV003713486] Chr1:215798923 [GRCh38]
Chr1:215972265 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8389dup (p.Ser2797fs) duplication not provided [RCV003572852] Chr1:215878932..215878933 [GRCh38]
Chr1:216052274..216052275 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.4641C>T (p.Ser1547=) single nucleotide variant not provided [RCV003661171] Chr1:216097200 [GRCh38]
Chr1:216270542 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8681+1G>C single nucleotide variant not provided [RCV003687446] Chr1:215877757 [GRCh38]
Chr1:216051099 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2167+7G>T single nucleotide variant not provided [RCV003661222] Chr1:216250896 [GRCh38]
Chr1:216424238 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14791+18C>T single nucleotide variant not provided [RCV003689529] Chr1:215647504 [GRCh38]
Chr1:215820846 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4494T>A (p.Pro1498=) single nucleotide variant not provided [RCV003544518] Chr1:216175385 [GRCh38]
Chr1:216348727 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9315T>G (p.Thr3105=) single nucleotide variant not provided [RCV003574296] Chr1:215838047 [GRCh38]
Chr1:216011389 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15285G>C (p.Gly5095=) single nucleotide variant not provided [RCV003663151] Chr1:215634471 [GRCh38]
Chr1:215807813 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4885+13T>G single nucleotide variant not provided [RCV003688155] Chr1:216089000 [GRCh38]
Chr1:216262342 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.8037T>C (p.His2679=) single nucleotide variant not provided [RCV003574454] Chr1:215888612 [GRCh38]
Chr1:216061954 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13596C>T (p.Pro4532=) single nucleotide variant not provided [RCV003547685] Chr1:215674315 [GRCh38]
Chr1:215847657 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9958+1G>C single nucleotide variant not provided [RCV003572127] Chr1:215798906 [GRCh38]
Chr1:215972248 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.6325+15G>A single nucleotide variant not provided [RCV003876880] Chr1:216046416 [GRCh38]
Chr1:216219758 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1329-19G>A single nucleotide variant not provided [RCV003877755] Chr1:216323714 [GRCh38]
Chr1:216497056 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2142G>A (p.Gln714=) single nucleotide variant not provided [RCV003573799] Chr1:216250928 [GRCh38]
Chr1:216424270 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9348C>T (p.Pro3116=) single nucleotide variant not provided [RCV003661358] Chr1:215838014 [GRCh38]
Chr1:216011356 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.856C>T (p.Leu286=) single nucleotide variant not provided [RCV003689820] Chr1:216325592 [GRCh38]
Chr1:216498934 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15072T>G (p.Pro5024=) single nucleotide variant not provided [RCV003547677] Chr1:215634684 [GRCh38]
Chr1:215808026 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12328T>C (p.Tyr4110His) single nucleotide variant not provided [RCV003877026] Chr1:215675583 [GRCh38]
Chr1:215848925 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.11048-16G>A single nucleotide variant not provided [RCV003574531] Chr1:215759859 [GRCh38]
Chr1:215933201 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5522G>T (p.Gly1841Val) single nucleotide variant not provided [RCV003544096] Chr1:216078139 [GRCh38]
Chr1:216251481 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.1234T>A (p.Trp412Arg) single nucleotide variant not provided [RCV003686753] Chr1:216324262 [GRCh38]
Chr1:216497604 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2809+10A>G single nucleotide variant not provided [RCV003879281] Chr1:216246575 [GRCh38]
Chr1:216419917 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7182C>T (p.Asn2394=) single nucleotide variant not provided [RCV003544187] Chr1:215934734 [GRCh38]
Chr1:216108076 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9135C>T (p.Asn3045=) single nucleotide variant not provided [RCV003661245] Chr1:215844417 [GRCh38]
Chr1:216017759 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15520-16T>C single nucleotide variant not provided [RCV003713290] Chr1:215625886 [GRCh38]
Chr1:215799228 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.13155G>A (p.Lys4385=) single nucleotide variant not provided [RCV003663153] Chr1:215674756 [GRCh38]
Chr1:215848098 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12378T>G (p.Thr4126=) single nucleotide variant not provided [RCV003659997] Chr1:215675533 [GRCh38]
Chr1:215848875 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.63C>A (p.Ile21=) single nucleotide variant not provided [RCV003716109] Chr1:216422274 [GRCh38]
Chr1:216595616 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7637del (p.Lys2545_Ser2546insTer) deletion not provided [RCV003690332] Chr1:215889012 [GRCh38]
Chr1:216062354 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2810-4C>T single nucleotide variant not provided [RCV003573804] Chr1:216232140 [GRCh38]
Chr1:216405482 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9744A>G (p.Glu3248=) single nucleotide variant not provided [RCV003572805] Chr1:215799121 [GRCh38]
Chr1:215972463 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12554T>A (p.Ile4185Lys) single nucleotide variant not provided [RCV003687431] Chr1:215675357 [GRCh38]
Chr1:215848699 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.13502C>G (p.Pro4501Arg) single nucleotide variant not provided [RCV003572754] Chr1:215674409 [GRCh38]
Chr1:215847751 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.9468T>A (p.Thr3156=) single nucleotide variant not provided [RCV003544534] Chr1:215817099 [GRCh38]
Chr1:215990441 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.15298-20C>T single nucleotide variant not provided [RCV003688288] Chr1:215629055 [GRCh38]
Chr1:215802397 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6050-7A>G single nucleotide variant not provided [RCV003689121] Chr1:216048654 [GRCh38]
Chr1:216221996 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.785-19C>G single nucleotide variant not provided [RCV003544778] Chr1:216327673 [GRCh38]
Chr1:216501015 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14569G>A (p.Gly4857Ser) single nucleotide variant not provided [RCV003716482] Chr1:215648541 [GRCh38]
Chr1:215821883 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.7049_7053del (p.Glu2350fs) deletion not provided [RCV003547866] Chr1:215965384..215965388 [GRCh38]
Chr1:216138726..216138730 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.1392T>A (p.Arg464=) single nucleotide variant not provided [RCV003572814] Chr1:216323632 [GRCh38]
Chr1:216496974 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4443A>C (p.Thr1481=) single nucleotide variant not provided [RCV003574657] Chr1:216175436 [GRCh38]
Chr1:216348778 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3317-5T>C single nucleotide variant not provided [RCV003547550] Chr1:216200126 [GRCh38]
Chr1:216373468 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.9329C>T (p.Pro3110Leu) single nucleotide variant not provided [RCV003714024] Chr1:215838033 [GRCh38]
Chr1:216011375 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.3423C>T (p.Tyr1141=) single nucleotide variant not provided [RCV003661634] Chr1:216200015 [GRCh38]
Chr1:216373357 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1209G>A (p.Lys403=) single nucleotide variant not provided [RCV003688526] Chr1:216324287 [GRCh38]
Chr1:216497629 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3812-12T>G single nucleotide variant not provided [RCV003879383] Chr1:216198596 [GRCh38]
Chr1:216371938 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.11037A>G (p.Ala3679=) single nucleotide variant not provided [RCV003715439] Chr1:215766691 [GRCh38]
Chr1:215940033 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4252-16C>T single nucleotide variant not provided [RCV003714006] Chr1:216190383 [GRCh38]
Chr1:216363725 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12060A>G (p.Thr4020=) single nucleotide variant not provided [RCV003574558] Chr1:215728036 [GRCh38]
Chr1:215901378 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4396+12T>C single nucleotide variant not provided [RCV003686498] Chr1:216190211 [GRCh38]
Chr1:216363553 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.10940-10C>T single nucleotide variant not provided [RCV003686519] Chr1:215766798 [GRCh38]
Chr1:215940140 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.14561del (p.Phe4854fs) deletion not provided [RCV003545352] Chr1:215648549 [GRCh38]
Chr1:215821891 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.13256del (p.Phe4419fs) deletion not provided [RCV003714221] Chr1:215674655 [GRCh38]
Chr1:215847997 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.3316+9A>G single nucleotide variant not provided [RCV003573076] Chr1:216207264 [GRCh38]
Chr1:216380606 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4081+9C>G single nucleotide variant not provided [RCV003687467] Chr1:216198306 [GRCh38]
Chr1:216371648 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12899T>C (p.Leu4300Pro) single nucleotide variant not provided [RCV003662454] Chr1:215675012 [GRCh38]
Chr1:215848354 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.144A>G (p.Lys48=) single nucleotide variant not provided [RCV003543907] Chr1:216422193 [GRCh38]
Chr1:216595535 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.1840+20C>T single nucleotide variant not provided [RCV003879598] Chr1:216292155 [GRCh38]
Chr1:216465497 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2102C>G (p.Thr701Arg) single nucleotide variant not provided [RCV003716294] Chr1:216250968 [GRCh38]
Chr1:216424310 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.14133+15T>A single nucleotide variant not provided [RCV003686524] Chr1:215670957 [GRCh38]
Chr1:215844299 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12471T>C (p.Ser4157=) single nucleotide variant not provided [RCV003686526] Chr1:215675440 [GRCh38]
Chr1:215848782 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.747del (p.Phe249fs) deletion not provided [RCV003545402] Chr1:216364990 [GRCh38]
Chr1:216538332 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.6915A>G (p.Arg2305=) single nucleotide variant not provided [RCV003714248] Chr1:215970667 [GRCh38]
Chr1:216144009 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7863A>G (p.Pro2621=) single nucleotide variant not provided [RCV003686594] Chr1:215888786 [GRCh38]
Chr1:216062128 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.12241C>A (p.Arg4081=) single nucleotide variant not provided [RCV003690352] Chr1:215680202 [GRCh38]
Chr1:215853544 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.6485+5del deletion not provided [RCV003688093] Chr1:216000398 [GRCh38]
Chr1:216173740 [GRCh37]
Chr1:1q41
likely pathogenic
NM_206933.4(USH2A):c.13365dup (p.Gly4456fs) duplication not provided [RCV003573324] Chr1:215674545..215674546 [GRCh38]
Chr1:215847887..215847888 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.2491G>T (p.Glu831Ter) single nucleotide variant not provided [RCV003690189] Chr1:216246903 [GRCh38]
Chr1:216420245 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.9371+13G>T single nucleotide variant not provided [RCV003689488] Chr1:215837978 [GRCh38]
Chr1:216011320 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2993+16C>T single nucleotide variant not provided [RCV003662633] Chr1:216231937 [GRCh38]
Chr1:216405279 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.7605del (p.Pro2535_Val2536insTer) deletion not provided [RCV003572316] Chr1:215889044 [GRCh38]
Chr1:216062386 [GRCh37]
Chr1:1q41
pathogenic
NM_206933.4(USH2A):c.8029A>G (p.Arg2677Gly) single nucleotide variant not provided [RCV003543935] Chr1:215888620 [GRCh38]
Chr1:216061962 [GRCh37]
Chr1:1q41
uncertain significance
NM_206933.4(USH2A):c.15216T>C (p.Tyr5072=) single nucleotide variant not provided [RCV003543946] Chr1:215634540 [GRCh38]
Chr1:215807882 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.4758+15A>T single nucleotide variant not provided [RCV003687876] Chr1:216097068 [GRCh38]
Chr1:216270410 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.2506C>T (p.Leu836=) single nucleotide variant not provided [RCV003544258] Chr1:216246888 [GRCh38]
Chr1:216420230 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.3738A>G (p.Leu1246=) single nucleotide variant not provided [RCV003715064] Chr1:216199700 [GRCh38]
Chr1:216373042 [GRCh37]
Chr1:1q41
likely benign
NM_206933.4(USH2A):c.5776+19A>T single nucleotide variant not provided [RCV003714470] Chr1:216073078 [GRCh38]
Chr1:216246420 [GRCh37]
Chr1:1q41
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2593
Count of miRNA genes:839
Interacting mature miRNAs:981
Transcripts:ENST00000307340, ENST00000366942, ENST00000366943, ENST00000463147, ENST00000481786
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D1S2827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,139,209 - 216,139,352UniSTSGRCh37
Build 361214,205,832 - 214,205,975RGDNCBI36
Celera1189,362,978 - 189,363,123RGD
Cytogenetic Map1q41UniSTS
HuRef1186,814,344 - 186,814,489UniSTS
Marshfield Genetic Map1234.52UniSTS
Marshfield Genetic Map1234.52RGD
Genethon Genetic Map1238.5UniSTS
deCODE Assembly Map1219.69UniSTS
143XF10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,147,235 - 216,147,342UniSTSGRCh37
Build 361214,213,858 - 214,213,965RGDNCBI36
Celera1189,371,006 - 189,371,113RGD
Cytogenetic Map1q41UniSTS
HuRef1186,822,372 - 186,822,483UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-76355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,231,646 - 216,231,779UniSTSGRCh37
Build 361214,298,269 - 214,298,402RGDNCBI36
Celera1189,455,442 - 189,455,575RGD
Cytogenetic Map1q41UniSTS
HuRef1186,906,222 - 186,906,355UniSTS
TNG Radiation Hybrid Map1107469.0UniSTS
GeneMap99-GB4 RH Map1703.79UniSTS
RH79627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,347,319 - 216,347,480UniSTSGRCh37
Build 361214,413,942 - 214,414,103RGDNCBI36
Celera1189,571,085 - 189,571,246RGD
Cytogenetic Map1q41UniSTS
HuRef1187,022,142 - 187,022,303UniSTS
GeneMap99-GB4 RH Map1703.82UniSTS
AL033963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,962,070 - 215,962,160UniSTSGRCh37
Build 361214,028,693 - 214,028,783RGDNCBI36
Celera1189,185,878 - 189,185,968RGD
Cytogenetic Map1q41UniSTS
HuRef1186,637,335 - 186,637,425UniSTS
AL033887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,448,194 - 216,448,376UniSTSGRCh37
Build 361214,514,817 - 214,514,999RGDNCBI36
Celera1189,671,947 - 189,672,129RGD
Cytogenetic Map1q41UniSTS
HuRef1187,123,698 - 187,123,880UniSTS
AL034147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,848,474 - 215,848,650UniSTSGRCh37
Build 361213,915,097 - 213,915,273RGDNCBI36
Celera1189,072,298 - 189,072,474RGD
Cytogenetic Map1q41UniSTS
HuRef1186,522,724 - 186,522,900UniSTS
AL034204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,928,118 - 215,928,199UniSTSGRCh37
Build 361213,994,741 - 213,994,822RGDNCBI36
Celera1189,151,931 - 189,152,012RGD
Cytogenetic Map1q41UniSTS
HuRef1186,603,387 - 186,603,468UniSTS
SHGC-78958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,108,352 - 216,108,685UniSTSGRCh37
Build 361214,174,975 - 214,175,308RGDNCBI36
Celera1189,332,121 - 189,332,454RGD
Cytogenetic Map1q41UniSTS
HuRef1186,783,485 - 186,783,818UniSTS
TNG Radiation Hybrid Map1107414.0UniSTS
SHGC-84884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,252,715 - 216,253,000UniSTSGRCh37
Build 361214,319,338 - 214,319,623RGDNCBI36
Celera1189,476,511 - 189,476,796RGD
Cytogenetic Map1q41UniSTS
HuRef1186,927,292 - 186,927,577UniSTS
TNG Radiation Hybrid Map1107469.0UniSTS
RH119862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,938,715 - 215,939,015UniSTSGRCh37
Build 361214,005,338 - 214,005,638RGDNCBI36
Celera1189,162,523 - 189,162,823RGD
Cytogenetic Map1q41UniSTS
HuRef1186,613,979 - 186,614,279UniSTS
TNG Radiation Hybrid Map1107306.0UniSTS
RH118881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,086,233 - 216,086,550UniSTSGRCh37
Build 361214,152,856 - 214,153,173RGDNCBI36
Celera1189,310,001 - 189,310,318RGD
Cytogenetic Map1q41UniSTS
HuRef1186,761,365 - 186,761,682UniSTS
G62491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,988,372 - 215,988,679UniSTSGRCh37
Build 361214,054,995 - 214,055,302RGDNCBI36
Celera1189,212,189 - 189,212,496RGD
Cytogenetic Map1q41UniSTS
HuRef1186,663,650 - 186,663,957UniSTS
TNG Radiation Hybrid Map1107325.0UniSTS
G63076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,847,688 - 215,847,960UniSTSGRCh37
Build 361213,914,311 - 213,914,583RGDNCBI36
Celera1189,071,512 - 189,071,784RGD
Cytogenetic Map1q41UniSTS
HuRef1186,521,938 - 186,522,210UniSTS
TNG Radiation Hybrid Map1106505.0UniSTS
SHGC-106817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,114,756 - 216,115,081UniSTSGRCh37
Build 361214,181,379 - 214,181,704RGDNCBI36
Celera1189,338,525 - 189,338,850RGD
Cytogenetic Map1q41UniSTS
HuRef1186,789,889 - 186,790,214UniSTS
TNG Radiation Hybrid Map1107405.0UniSTS
SHGC-132295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,139,093 - 216,139,359UniSTSGRCh37
Build 361214,205,716 - 214,205,982RGDNCBI36
Celera1189,362,862 - 189,363,130RGD
Cytogenetic Map1q41UniSTS
HuRef1186,814,228 - 186,814,496UniSTS
TNG Radiation Hybrid Map1107435.0UniSTS
SHGC-144902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,228,362 - 216,228,640UniSTSGRCh37
Build 361214,294,985 - 214,295,263RGDNCBI36
Celera1189,452,158 - 189,452,436RGD
Cytogenetic Map1q41UniSTS
HuRef1186,902,934 - 186,903,212UniSTS
TNG Radiation Hybrid Map1107458.0UniSTS
AL010107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,928,120 - 215,928,243UniSTSGRCh37
Build 361213,994,743 - 213,994,866RGDNCBI36
Celera1189,151,933 - 189,152,056RGD
Cytogenetic Map1q41UniSTS
HuRef1186,603,389 - 186,603,512UniSTS
AL009345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,242,153 - 216,242,321UniSTSGRCh37
Build 361214,308,776 - 214,308,944RGDNCBI36
Celera1189,465,949 - 189,466,117RGD
Cytogenetic Map1q41UniSTS
HuRef1186,916,729 - 186,916,897UniSTS
SHGC-111484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,275,382 - 216,275,659UniSTSGRCh37
Build 361214,342,005 - 214,342,282RGDNCBI36
Celera1189,499,178 - 189,499,455RGD
Cytogenetic Map1q41UniSTS
HuRef1186,949,959 - 186,950,236UniSTS
TNG Radiation Hybrid Map1107479.0UniSTS
SHGC-155213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,039,318 - 216,039,596UniSTSGRCh37
Build 361214,105,941 - 214,106,219RGDNCBI36
Celera1189,263,139 - 189,263,417RGD
Cytogenetic Map1q41UniSTS
HuRef1186,714,504 - 186,714,782UniSTS
TNG Radiation Hybrid Map1107359.0UniSTS
AL009855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,963,241 - 215,963,396UniSTSGRCh37
Build 361214,029,864 - 214,030,019RGDNCBI36
Celera1189,187,059 - 189,187,214RGD
Cytogenetic Map1q41UniSTS
HuRef1186,638,516 - 186,638,671UniSTS
AL009286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,038,654 - 216,038,809UniSTSGRCh37
Build 361214,105,277 - 214,105,432RGDNCBI36
Celera1189,262,475 - 189,262,630RGD
Cytogenetic Map1q41UniSTS
HuRef1186,713,840 - 186,713,995UniSTS
D1S2086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,050,949 - 216,051,158UniSTSGRCh37
Build 361214,117,572 - 214,117,781RGDNCBI36
Celera1189,274,773 - 189,274,982RGD
Cytogenetic Map1q41UniSTS
HuRef1186,726,137 - 186,726,346UniSTS
Whitehead-YAC Contig Map1 UniSTS
AFM248tc1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,901,884 - 215,902,002UniSTSGRCh37
Build 361213,968,507 - 213,968,625RGDNCBI36
Celera1189,125,699 - 189,125,821RGD
Cytogenetic Map1q41UniSTS
HuRef1186,575,787 - 186,575,913UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL009851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,362,603 - 216,362,762UniSTSGRCh37
Build 361214,429,226 - 214,429,385RGDNCBI36
Celera1189,586,369 - 189,586,528RGD
Cytogenetic Map1q41UniSTS
HuRef1187,037,426 - 187,037,585UniSTS
D1S2171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,370,720 - 216,370,870UniSTSGRCh37
Build 361214,437,343 - 214,437,493RGDNCBI36
Celera1189,594,486 - 189,594,636RGD
Cytogenetic Map1q41UniSTS
HuRef1187,045,543 - 187,045,693UniSTS
Whitehead-RH Map1850.2UniSTS
Whitehead-YAC Contig Map1 UniSTS
AFM268zd1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,258,955 - 216,259,204UniSTSGRCh37
Build 361214,325,578 - 214,325,827RGDNCBI36
Celera1189,482,751 - 189,483,000RGD
Cytogenetic Map1q41UniSTS
Whitehead-YAC Contig Map1 UniSTS
AL009491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,053,375 - 216,053,539UniSTSGRCh37
Build 361214,119,998 - 214,120,162RGDNCBI36
Celera1189,277,199 - 189,277,363RGD
Cytogenetic Map1q41UniSTS
HuRef1186,728,563 - 186,728,727UniSTS
D1S2435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371216,390,356 - 216,390,562UniSTSGRCh37
Build 361214,456,979 - 214,457,185RGDNCBI36
Celera1189,614,131 - 189,614,337RGD
Cytogenetic Map1q41UniSTS
HuRef1187,065,804 - 187,066,010UniSTS
Whitehead-YAC Contig Map1 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 1 1 1 4 1 1
Low 4 37 266 243 4 243 25 2 14 5 335 12 1
Below cutoff 2260 2398 1356 347 751 185 4125 2077 3619 236 943 1294 162 1167 2698 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA883599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AADB02001158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY481573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP836349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC741390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000307340   ⟹   ENSP00000305941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,622,891 - 216,423,448 (-)Ensembl
RefSeq Acc Id: ENST00000366942   ⟹   ENSP00000355909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1216,173,946 - 216,423,396 (-)Ensembl
RefSeq Acc Id: ENST00000463147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1216,083,380 - 216,085,108 (-)Ensembl
RefSeq Acc Id: ENST00000481786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1216,083,370 - 216,089,139 (-)Ensembl
RefSeq Acc Id: ENST00000674083   ⟹   ENSP00000501296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1215,622,891 - 216,423,448 (-)Ensembl
RefSeq Acc Id: NM_007123   ⟹   NP_009054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381216,173,946 - 216,423,448 (-)NCBI
GRCh371215,796,236 - 216,596,738 (-)ENTREZGENE
Build 361214,413,911 - 214,663,361 (-)NCBI Archive
HuRef1186,470,498 - 187,272,188 (-)ENTREZGENE
CHM1_11217,619,981 - 217,869,890 (-)NCBI
T2T-CHM13v2.01215,414,295 - 215,663,779 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206933   ⟹   NP_996816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,622,891 - 216,423,448 (-)NCBI
GRCh371215,796,236 - 216,596,738 (-)ENTREZGENE
Build 361213,862,859 - 214,663,361 (-)NCBI Archive
HuRef1186,470,498 - 187,272,188 (-)ENTREZGENE
CHM1_11217,068,567 - 217,869,890 (-)NCBI
T2T-CHM13v2.01214,863,291 - 215,663,779 (-)NCBI
Sequence:
RefSeq Acc Id: NP_996816   ⟸   NM_206933
- Peptide Label: isoform B precursor
- UniProtKB: Q6S362 (UniProtKB/Swiss-Prot),   Q5VVM9 (UniProtKB/Swiss-Prot),   O75445 (UniProtKB/Swiss-Prot),   Q9NS27 (UniProtKB/Swiss-Prot),   A0A0K1P7S2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_009054   ⟸   NM_007123
- Peptide Label: isoform A precursor
- Sequence:
RefSeq Acc Id: ENSP00000501296   ⟸   ENST00000674083
RefSeq Acc Id: ENSP00000305941   ⟸   ENST00000307340
RefSeq Acc Id: ENSP00000355909   ⟸   ENST00000366942
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75445-F1-model_v2 AlphaFold O75445 1-1400 view protein structure
AF-O75445-F2-model_v2 AlphaFold O75445 201-1600 view protein structure
AF-O75445-F3-model_v2 AlphaFold O75445 401-1800 view protein structure
AF-O75445-F4-model_v2 AlphaFold O75445 601-2000 view protein structure
AF-O75445-F5-model_v2 AlphaFold O75445 801-2200 view protein structure
AF-O75445-F6-model_v2 AlphaFold O75445 1001-2400 view protein structure
AF-O75445-F7-model_v2 AlphaFold O75445 1201-2600 view protein structure
AF-O75445-F8-model_v2 AlphaFold O75445 1401-2800 view protein structure
AF-O75445-F9-model_v2 AlphaFold O75445 1601-3000 view protein structure
AF-O75445-F10-model_v2 AlphaFold O75445 1801-3200 view protein structure
AF-O75445-F11-model_v2 AlphaFold O75445 2001-3400 view protein structure
AF-O75445-F12-model_v2 AlphaFold O75445 2201-3600 view protein structure
AF-O75445-F13-model_v2 AlphaFold O75445 2401-3800 view protein structure
AF-O75445-F14-model_v2 AlphaFold O75445 2601-4000 view protein structure
AF-O75445-F15-model_v2 AlphaFold O75445 2801-4200 view protein structure
AF-O75445-F16-model_v2 AlphaFold O75445 3001-4400 view protein structure
AF-O75445-F17-model_v2 AlphaFold O75445 3201-4600 view protein structure
AF-O75445-F18-model_v2 AlphaFold O75445 3401-4800 view protein structure
AF-O75445-F19-model_v2 AlphaFold O75445 3601-5000 view protein structure
AF-O75445-F20-model_v2 AlphaFold O75445 3801-5200 view protein structure
AF-O75445-F21-model_v2 AlphaFold O75445 4001-5202 view protein structure

Promoters
RGD ID:6858996
Promoter ID:EPDNEW_H2662
Type:initiation region
Name:USH2A_1
Description:usherin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381216,423,448 - 216,423,508EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12601 AgrOrtholog
COSMIC USH2A COSMIC
Ensembl Genes ENSG00000042781 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307340 ENTREZGENE
  ENST00000307340.8 UniProtKB/Swiss-Prot
  ENST00000366942 ENTREZGENE
  ENST00000366942.3 UniProtKB/Swiss-Prot
  ENST00000674083.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Immunoglobulins UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000042781 GTEx
HGNC ID HGNC:12601 ENTREZGENE
Human Proteome Map USH2A Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LE_dom UniProtKB/TrEMBL
KEGG Report hsa:7399 UniProtKB/Swiss-Prot
NCBI Gene 7399 ENTREZGENE
OMIM 608400 OMIM
PANTHER CYTOKINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37228 PharmGKB
PRINTS EGFLAMININ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_LAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMININ_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamGL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Concanavalin A-like lectins/glucanases UniProtKB/TrEMBL
  EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fibronectin type III UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  SSF49899 UniProtKB/Swiss-Prot
UniProt A0A0K1P7S2 ENTREZGENE, UniProtKB/TrEMBL
  O75445 ENTREZGENE
  Q5VVM9 ENTREZGENE
  Q6S362 ENTREZGENE
  Q9NS27 ENTREZGENE
  USH2A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5VVM9 UniProtKB/Swiss-Prot
  Q6S362 UniProtKB/Swiss-Prot
  Q9NS27 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 USH2A  usherin  USH2A  Usher syndrome 2A (autosomal recessive, mild)  Symbol and/or name change 5135510 APPROVED