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# | 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. |
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 | PMID:38135239 |
USH2A (Homo sapiens - human) |
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Ush2a (Mus musculus - house mouse) |
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Ush2a (Rattus norvegicus - Norway rat) |
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Ush2a (Chinchilla lanigera - long-tailed chinchilla) |
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USH2A (Pan paniscus - bonobo/pygmy chimpanzee) |
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USH2A (Canis lupus familiaris - dog) |
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Ush2a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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USH2A (Sus scrofa - pig) |
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USH2A (Chlorocebus sabaeus - green monkey) |
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Ush2a (Heterocephalus glaber - naked mole-rat) |
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Variants in USH2A
7121 total 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]|USH2A-related condition [RCV003904796]|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 | Retinal dystrophy [RCV003888571]|Retinitis pigmentosa [RCV000132700] | Chr1:215782779 [GRCh38] Chr1:215956121 [GRCh37] Chr1:1q41 |
pathogenic|uncertain significance |
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|conflicting interpretations of pathogenicity |
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) | single nucleotide variant | Leber congenital amaurosis [RCV000144482]|Retinal dystrophy [RCV003888572]|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 | Retinal dystrophy [RCV003888573]|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 |
pathogenic|likely pathogenic |
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) | single nucleotide variant | Retinal dystrophy [RCV003888574]|Retinitis pigmentosa 39 [RCV003462053]|Retinitis pigmentosa [RCV000132714]|not provided [RCV003556178] | 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]|USH2A-related condition [RCV003924994]|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 | Retinal dystrophy [RCV003887907]|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 | Retinal dystrophy [RCV003888397]|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 | Retinal dystrophy [RCV003888398]|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 | Retinal dystrophy [RCV003888399]|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|no classifications from unflagged records |
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 | Retinal dystrophy [RCV003888400]|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]|USH2A-related condition [RCV003904989]|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 | Retinal dystrophy [RCV003888401]|Retinitis pigmentosa 39 [RCV003450861]|Usher syndrome type 2A [RCV003450860]|not provided [RCV000756881]|not specified [RCV000041874] | Chr1:216070157 [GRCh38] Chr1:216243499 [GRCh37] Chr1:1q41 |
benign|likely 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]|USH2A-related condition [RCV003904990]|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 | Retinal dystrophy [RCV003888402]|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]|USH2A-related condition [RCV003904991]|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 | Retinal dystrophy [RCV003888403]|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 | Retinal dystrophy [RCV003888404]|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 | Retinal dystrophy [RCV003888405]|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 | Retinal dystrophy [RCV003888406]|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 | Retinal dystrophy [RCV003888407]|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]|Retinal dystrophy [RCV003888408]|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 provided [RCV003764712]|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 | Retinal dystrophy [RCV003888409]|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 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) | single nucleotide variant | Retinitis pigmentosa 39 [RCV003450900]|USH2A-related condition [RCV003934974]|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 | Retinal dystrophy [RCV003888410]|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 | Retinal dystrophy [RCV003888411]|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 | Retinal dystrophy [RCV003888412]|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 | Retinal dystrophy [RCV003888413]|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 [RCV003492342]|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 | Retinal dystrophy [RCV003888414]|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 | Retinal dystrophy [RCV003888415]|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 | Retinal dystrophy [RCV003887881]|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 | USH2A-related condition [RCV003944955]|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 | Retinal dystrophy [RCV003887882]|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 | Retinal dystrophy [RCV003887883]|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 | Retinal dystrophy [RCV003887884]|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 | Retinal dystrophy [RCV003887885]|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 | Retinal dystrophy [RCV003887886]|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 | Retinal dystrophy [RCV003887887]|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]|USH2A-related condition [RCV003915003]|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 | Retinal dystrophy [RCV003887888]|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 | Retinal dystrophy [RCV003887889]|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]|Retinal dystrophy [RCV003887890]|Usher syndrome [RCV003389451]|Usher syndrome type 2A [RCV003450768] | Chr1:215675172 [GRCh38] Chr1:215848514 [GRCh37] Chr1:1q41 |
pathogenic|likely pathogenic|uncertain significance |
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 provided [RCV003574707]|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 | Retinal dystrophy [RCV003887891]|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 | Retinal dystrophy [RCV003887892]|Retinitis pigmentosa 39 [RCV003450776]|USH2A-related condition [RCV003952464]|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 | Retinal dystrophy [RCV003887893]|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 | Retinal dystrophy [RCV003887894]|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]|Retinal dystrophy [RCV003887895]|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|uncertain significance |
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 | Retinal dystrophy [RCV003887896]|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 | Retinal dystrophy [RCV003887897]|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 | Retinal dystrophy [RCV003887898]|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 | Retinal dystrophy [RCV003887899]|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 | Retinal dystrophy [RCV003887900]|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 | Retinal dystrophy [RCV003887901]|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 | Retinal dystrophy [RCV003887902]|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]|USH2A-related condition [RCV003904988]|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 | Retinal dystrophy [RCV003887903]|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 | Retinal dystrophy [RCV003887904]|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]|USH2A-related condition [RCV003944956]|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]|USH2A-related condition [RCV003891517]|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|no classifications from unflagged records |
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]|USH2A-related condition [RCV003924992]|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 | Retinal dystrophy [RCV003887905]|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]|not provided [RCV003669102] | 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 | Retinal dystrophy [RCV003887906]|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]|USH2A-related condition [RCV003924993]|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 | not provided [RCV003575441] | 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]|Retinal dystrophy [RCV003888576]|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]|USH2A-related condition [RCV003900058]|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 | USH2A-related condition [RCV003907568]|not provided [RCV000175382] | Chr1:216198535 [GRCh38] Chr1:216371877 [GRCh37] Chr1:1q41 |
likely benign|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 | Retinal dystrophy [RCV003888603]|Retinitis pigmentosa 39 [RCV003453187]|USH2A-related condition [RCV003945243]|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 | Retinal dystrophy [RCV003888604]|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 | Retinal dystrophy [RCV003888598]|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]|USH2A-related condition [RCV003952760]|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 | Retinal dystrophy [RCV003888605]|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 | Retinal dystrophy [RCV003888599]|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 | Retinal dystrophy [RCV003888600]|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 provided [RCV003764982]|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 | Retinal dystrophy [RCV003888601]|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 | Retinal dystrophy [RCV003888602]|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 | USH2A-related condition [RCV003937460]|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 provided [RCV003688830]|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]|not provided [RCV003688831] | 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 | Retinal dystrophy [RCV003888579]|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]|USH2A-related condition [RCV003965164]|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]|USH2A-related condition [RCV003965136]|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 | USH2A-related condition [RCV003952739]|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 | Retinal dystrophy [RCV003888578]|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]|USH2A-related condition [RCV003945202]|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 | Retinal dystrophy [RCV003888580]|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 | Retinal dystrophy [RCV003888581]|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]|USH2A-related condition [RCV003917674]|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 | USH2A-related condition [RCV003917637]|Usher syndrome type 2A [RCV001273051]|not provided [RCV000176439]|not specified [RCV001000728] | Chr1:216089102 [GRCh38] Chr1:216262444 [GRCh37] Chr1:1q41 |
likely benign|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]|USH2A-related condition [RCV003910076]|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]|USH2A-related condition [RCV003940105]|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 provided [RCV003669113]|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]|not provided [RCV003688833] | 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]|USH2A-related condition [RCV003937848]|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 | USH2A-related condition [RCV003919878]|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 | Retinal dystrophy [RCV003888649]|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|conflicting interpretations of pathogenicity|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 | USH2A-related condition [RCV003955252]|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]|USH2A-related condition [RCV003955280]|Usher syndrome type 2A [RCV001276964]|not provided [RCV001239051]|not specified [RCV000216065] | Chr1:215866998..215867001 [GRCh38] Chr1:216040340..216040343 [GRCh37] Chr1:1q41 |
likely benign|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]|USH2A-related condition [RCV003907821]|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]|not provided [RCV003556290] | Chr1:216000563 [GRCh38] Chr1:216173905 [GRCh37] Chr1:1q41 |
likely pathogenic|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]|not provided [RCV003688867] | 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 | Retinal dystrophy [RCV003889954]|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]|not provided [RCV003669165] | Chr1:215934785..215934786 [GRCh38] Chr1:216108127..216108128 [GRCh37] Chr1:1q41 |
pathogenic|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|no classifications from unflagged records |
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 provided [RCV003765549]|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 | Retinal dystrophy [RCV003888668]|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 | Retinal dystrophy [RCV003888690]|not provided [RCV000305881] | Chr1:216073254 [GRCh38] Chr1:216246596 [GRCh37] Chr1:1q41 |
likely benign|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]|USH2A-related condition [RCV003909914]|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 | USH2A-related condition [RCV003967711]|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 | USH2A-related condition [RCV003942601]|Usher syndrome [RCV003389473]|not provided [RCV000487808] | Chr1:215674262 [GRCh38] Chr1:215847604 [GRCh37] Chr1:1q41 |
likely pathogenic|likely benign|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 | Retinal dystrophy [RCV003888648]|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 |
pathogenic|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]|USH2A-related condition [RCV003905656]|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 | Retinal dystrophy [RCV003888700]|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 | Retinal dystrophy [RCV003889931]|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 | Retinal dystrophy [RCV003889969]|not provided [RCV000728509] | Chr1:215934710 [GRCh38] Chr1:216108052 [GRCh37] Chr1:1q41 |
likely benign|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]|USH2A-related condition [RCV003906144]|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|conflicting interpretations of pathogenicity|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]|not provided [RCV003558501] | 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]|USH2A-related condition [RCV003965294]|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]|not specified [RCV003987614] | 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 | Retinal dystrophy [RCV003889933]|Retinitis pigmentosa 39 [RCV003451365]|USH2A-related condition [RCV003980125]|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 | Retinal dystrophy [RCV003889936]|not provided [RCV000968830]|not specified [RCV000615618] | Chr1:215647671 [GRCh38] Chr1:215821013 [GRCh37] Chr1:1q41 |
benign|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 | Retinal dystrophy [RCV003889934]|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 provided [RCV003558470]|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]|Retinal dystrophy [RCV003889925]|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 | Retinal dystrophy [RCV003889941]|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]|not provided [RCV003558510] | 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 | Retinal dystrophy [RCV003889943]|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 |
likely pathogenic|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]|not provided [RCV003767981] | 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]|not provided [RCV003679015] | Chr1:215639164..215639170 [GRCh38] Chr1:215812506..215812512 [GRCh37] Chr1:1q41 |
pathogenic|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]|not provided [RCV003558512] | Chr1:215728265 [GRCh38] Chr1:215901607 [GRCh37] Chr1:1q41 |
pathogenic|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]|not provided [RCV003688872] | 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]|not provided [RCV003688868] | 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 | Retinal dystrophy [RCV003889952]|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]|not provided [RCV003698808] | Chr1:215628921 [GRCh38] Chr1:215802263 [GRCh37] Chr1:1q41 |
pathogenic|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]|not provided [RCV003558525] | Chr1:215675048..215675052 [GRCh38] Chr1:215848390..215848394 [GRCh37] Chr1:1q41 |
pathogenic|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 | Retinal dystrophy [RCV003889944]|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 | Retinal dystrophy [RCV003889963]|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 | Retinal dystrophy [RCV003889951]|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 | Retinal dystrophy [RCV003889945]|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]|USH2A-related condition [RCV003928158]|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]|not provided [RCV003558482] | Chr1:216199943..216199944 [GRCh38] Chr1:216373285..216373286 [GRCh37] Chr1:1q41 |
pathogenic|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]|not provided [RCV003558534] | 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|conflicting interpretations of pathogenicity|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 | Retinal dystrophy [RCV003889946]|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 | Retinal dystrophy [RCV003889966]|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|conflicting interpretations of pathogenicity|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 | Retinal dystrophy [RCV003889962]|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]|not provided [RCV003669164] | 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]|not provided [RCV003558533] | 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 | Retinal dystrophy [RCV003889947]|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 |
likely pathogenic|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]|USH2A-related condition [RCV003928156]|Usher syndrome type 2A [RCV000665011]|Usher syndrome type 2A [RCV001835069]|not provided [RCV000924302] | Chr1:215675121 [GRCh38] Chr1:215848463 [GRCh37] Chr1:1q41 |
likely benign|conflicting interpretations of pathogenicity|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 | Retinal dystrophy [RCV003890094]|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 | Retinal dystrophy [RCV003890137]|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 | Retinal dystrophy [RCV003888306]|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 | Retinal dystrophy [RCV003890041]|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 | Retinal dystrophy [RCV003890074]|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 | Retinal dystrophy [RCV003890095]|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 | Retinal dystrophy [RCV003890125]|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 | Retinal dystrophy [RCV003890032]|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 | Retinal dystrophy [RCV003890078]|USH2A-related condition [RCV003925793]|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 | USH2A-related condition [RCV003973044]|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 |
likely benign|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]|not provided [RCV003698826] | 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]|not provided [RCV003660840] | 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]|not provided [RCV003769001] | 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]|not provided [RCV003660841] | 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 | Retinal dystrophy [RCV003889976]|Retinitis pigmentosa 39 [RCV003453611]|Retinitis pigmentosa [RCV001099202]|Usher syndrome type 2A [RCV000778221]|not provided [RCV001049330] | Chr1:216323678 [GRCh38] Chr1:216497020 [GRCh37] Chr1:1q41 |
likely benign|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]|USH2A-related condition [RCV003978005]|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 | Retinal dystrophy [RCV003890140]|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 | USH2A-related condition [RCV003970627]|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 | USH2A-related condition [RCV003960562]|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 | Retinal dystrophy [RCV003890025]|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 | Retinal dystrophy [RCV003890091]|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 | Retinal dystrophy [RCV003889991]|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 |
likely pathogenic|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 |
likely pathogenic|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 | Retinal dystrophy [RCV003890120]|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]|not provided [RCV003718296] | Chr1:216084856 [GRCh38] Chr1:216258198 [GRCh37] Chr1:1q41 |
likely pathogenic|uncertain significance |
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]|USH2A-related condition [RCV003973008]|Usher syndrome type 2A [RCV001827144]|not provided [RCV000994244] | Chr1:215674427 [GRCh38] Chr1:215847769 [GRCh37] Chr1:1q41 |
likely benign|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]|not provided [RCV003679025] | 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 | Retinal dystrophy [RCV003887973]|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 |
pathogenic|likely pathogenic|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 | Retinal dystrophy [RCV003889276]|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 | Retinal dystrophy [RCV003890099]|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 | Retinal dystrophy [RCV003890054]|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 | USH2A-related condition [RCV003978091]|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 | Retinal dystrophy [RCV003890134]|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 | Retinal dystrophy [RCV003890086]|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]|not provided [RCV003558634] | 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 | Retinal dystrophy [RCV003890203]|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 | Retinal dystrophy [RCV003887955]|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|likely 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]|not provided [RCV003669173] | 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]|not provided [RCV003775508] | 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 | Retinal dystrophy [RCV003890200]|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]|not provided [RCV003574816] | 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]|not provided [RCV003574817] | 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 |
likely pathogenic|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 | Retinal dystrophy [RCV003887929]|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 | Retinal dystrophy [RCV003890232]|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 |
pathogenic|likely pathogenic |
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala) | single nucleotide variant | Autosomal recessive retinitis pigmentosa [RCV001257872]|not provided [RCV003738028] | Chr1:215650641 [GRCh38] Chr1:215823983 [GRCh37] Chr1:1q41 |
pathogenic|likely 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 |
pathogenic|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 | Retinal dystrophy [RCV003888006]|Usher syndrome type 2A [RCV001835473]|not provided [RCV001304889] | Chr1:215628978 [GRCh38] Chr1:215802320 [GRCh37] Chr1:1q41 |
likely benign|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 |
likely benign|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 | Retinal dystrophy [RCV003888092]|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]|not provided [RCV003542344] | Chr1:216199932 [GRCh38] Chr1:216373274 [GRCh37] Chr1:1q41 |
pathogenic|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 | Retinal dystrophy [RCV003888123]|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 |
pathogenic|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]|Retinal dystrophy [RCV003888051]|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 | USH2A-related condition [RCV003983879]|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]|not provided [RCV003727971] | Chr1:215782897 [GRCh38] Chr1:215956239 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4252-15dup | duplication | Retinitis pigmentosa 39 [RCV003446680]|USH2A-related condition [RCV003928814]|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 | Retinal dystrophy [RCV003888121]|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 |
pathogenic|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 | Retinal dystrophy [RCV003888173]|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 | Retinal dystrophy [RCV003888169]|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 | Retinal dystrophy [RCV003888222]|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 | Retinal dystrophy [RCV003888098]|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 | Retinal dystrophy [RCV003888158]|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 | USH2A-related condition [RCV003920936]|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 | Retinal dystrophy [RCV003888127]|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 | USH2A-related condition [RCV003953784]|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 | USH2A-related condition [RCV003920960]|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 | USH2A-related condition [RCV003900573]|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 | USH2A-related condition [RCV003900727]|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 | Retinal dystrophy [RCV003888166]|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 | USH2A-related condition [RCV003930910]|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]|not specified [RCV003487783] | 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 | Retinal dystrophy [RCV003888319]|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 | Retinal dystrophy [RCV003888392]|Retinitis pigmentosa 39 [RCV003471017]|not provided [RCV001893744] | Chr1:215900144 [GRCh38] Chr1:216073486 [GRCh37] Chr1:1q41 |
pathogenic|likely 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 | Retinal dystrophy [RCV003889001]|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 | Retinal dystrophy [RCV003888333]|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 | Retinal dystrophy [RCV003888334]|Retinitis pigmentosa 39 [RCV003464157]|not provided [RCV002543341]|not specified [RCV001844784] | Chr1:215838103 [GRCh38] Chr1:216011445 [GRCh37] Chr1:1q41 |
pathogenic|likely benign|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 |
pathogenic|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 |
pathogenic|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]|not provided [RCV003546707] | 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]|not provided [RCV003574892] | 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 | Retinal dystrophy [RCV003888981]|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 |
likely benign|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 | Retinal dystrophy [RCV003888947]|not provided [RCV001951577] | Chr1:215674519 [GRCh38] Chr1:215847861 [GRCh37] Chr1:1q41 |
pathogenic|likely 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 |
likely pathogenic|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 |
likely pathogenic|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 | Retinal dystrophy [RCV003888906]|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 |
likely benign|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 | Retinal dystrophy [RCV003888944]|not provided [RCV001953584] | Chr1:215759788 [GRCh38] Chr1:215933130 [GRCh37] Chr1:1q41 |
pathogenic|likely 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 | Retinal dystrophy [RCV003888999]|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|conflicting interpretations of pathogenicity |
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 |
likely pathogenic|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 | Retinal dystrophy [RCV003889040]|not provided [RCV002088617] | Chr1:215675479 [GRCh38] Chr1:215848821 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
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 | Retinal dystrophy [RCV003889039]|not provided [RCV002110973] | Chr1:215675200 [GRCh38] Chr1:215848542 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
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 | Retinal dystrophy [RCV003889102]|Usher syndrome type 2A [RCV002210931] | Chr1:216198462 [GRCh38] Chr1:216371804 [GRCh37] Chr1:1q41 |
pathogenic|likely 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 | Retinal dystrophy [RCV003889087]|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 | Retinal dystrophy [RCV003889080]|not provided [RCV002134340] | Chr1:216073209 [GRCh38] Chr1:216246551 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
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 | USH2A-related condition [RCV003933553]|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 | Retinal dystrophy [RCV003889078]|not provided [RCV002138126] | Chr1:216246729 [GRCh38] Chr1:216420071 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
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 | Retinal dystrophy [RCV003889089]|not provided [RCV002163776] | Chr1:215674321 [GRCh38] Chr1:215847663 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
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 | USH2A-related condition [RCV003895986]|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]|not provided [RCV003774864] | 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]|not provided [RCV003561197] | 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]|not provided [RCV003565515] | 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 | Retinal dystrophy [RCV003889167]|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 |
pathogenic|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 | Retinal dystrophy [RCV003889220]|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 | Retinal dystrophy [RCV003889182]|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 |
likely pathogenic|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 provided [RCV003561058]|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 |
likely pathogenic|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 | Retinal dystrophy [RCV003889262]|not provided [RCV002638097] | Chr1:216325400 [GRCh38] Chr1:216498742 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
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 |
pathogenic|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 | USH2A-related condition [RCV003896214]|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 |
likely pathogenic|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 | Retinal dystrophy [RCV003889251]|not provided [RCV002643615] | Chr1:215640592 [GRCh38] Chr1:215813934 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
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 | Retinal dystrophy [RCV003889175]|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 |
likely pathogenic|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 |
pathogenic|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 |
pathogenic|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 | Retinal dystrophy [RCV003889252]|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 |
pathogenic|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 | Retinal dystrophy [RCV003889266]|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 | Retinal dystrophy [RCV003889240]|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 | Retinal dystrophy [RCV003889204]|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 | Retinal dystrophy [RCV003889187]|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 |
likely benign|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]|not provided [RCV003669346] | 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 |
likely benign|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 | Retinal dystrophy [RCV003889248]|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]|not provided [RCV003689058] | 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 | Retinal dystrophy [RCV003889108]|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]|not provided [RCV003777359] | 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 | Retinal dystrophy [RCV003889295]|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]|not provided [RCV003661044] | 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 provided [RCV003561309]|not specified [RCV003332022] | Chr1:215680182 [GRCh38] Chr1:215853524 [GRCh37] Chr1:1q41 |
likely pathogenic|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]|Retinal dystrophy [RCV003889298] | 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.1707T>C (p.Ala569=) | single nucleotide variant | not provided [RCV003692072] | Chr1:216292308 [GRCh38] Chr1:216465650 [GRCh37] Chr1:1q41 |
likely benign |
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.4311T>C (p.Tyr1437=) | single nucleotide variant | not provided [RCV003690934] | Chr1:216190308 [GRCh38] Chr1:216363650 [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]|not provided [RCV003565685] | Chr1:216072965 [GRCh38] Chr1:216246307 [GRCh37] Chr1:1q41 |
pathogenic|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.1328+7A>T | single nucleotide variant | not provided [RCV003692033] | Chr1:216324161 [GRCh38] Chr1:216497503 [GRCh37] Chr1:1q41 |
likely benign |
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]|not provided [RCV003565686] | Chr1:216199798..216199799 [GRCh38] Chr1:216373140..216373141 [GRCh37] Chr1:1q41 |
pathogenic|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]|not provided [RCV003553976] | 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]|not provided [RCV003779136] | 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]|not provided [RCV003669436] | Chr1:215817178..215817181 [GRCh38] Chr1:215990520..215990523 [GRCh37] Chr1:1q41 |
pathogenic|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.15177G>C (p.Leu5059=) | single nucleotide variant | not provided [RCV003691515] | Chr1:215634579 [GRCh38] Chr1:215807921 [GRCh37] Chr1:1q41 |
likely benign |
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]|not provided [RCV003779137] | 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 | Retinal dystrophy [RCV003889305]|Retinitis pigmentosa 39 [RCV003464785]|not provided [RCV003779134] | 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]|not provided [RCV003565687] | 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]|not provided [RCV003661065] | 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]|not provided [RCV003779135] | 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]|not provided [RCV003720932] | Chr1:215680356..215680357 [GRCh38] Chr1:215853698..215853699 [GRCh37] Chr1:1q41 |
pathogenic|likely pathogenic |
NM_206933.4(USH2A):c.4478del (p.Leu1493fs) | deletion | Retinitis pigmentosa 39 [RCV003464804]|not provided [RCV003553975] | Chr1:216175401 [GRCh38] Chr1:216348743 [GRCh37] Chr1:1q41 |
pathogenic|likely pathogenic |
NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter) | single nucleotide variant | Retinitis pigmentosa 39 [RCV003464811]|not provided [RCV003689101] | 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]|not provided [RCV003565688] | Chr1:215650631..215650652 [GRCh38] Chr1:215823973..215823994 [GRCh37] Chr1:1q41 |
pathogenic|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]|not provided [RCV003542492] | Chr1:215900900..215900901 [GRCh38] Chr1:216074242..216074243 [GRCh37] Chr1:1q41 |
pathogenic|likely pathogenic |
NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter) | single nucleotide variant | Retinitis pigmentosa 39 [RCV003466533]|not provided [RCV003732598] | Chr1:215741530 [GRCh38] Chr1:215914872 [GRCh37] Chr1:1q41 |
pathogenic|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.9959-19T>C | single nucleotide variant | not provided [RCV003852721] | Chr1:215790301 [GRCh38] Chr1:215963643 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5168-9T>G | single nucleotide variant | not provided [RCV003691166] | Chr1:216083595 [GRCh38] Chr1:216256937 [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]|not provided [RCV003565639] | 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 provided [RCV003720879]|not specified [RCV003388466] | Chr1:215680339 [GRCh38] Chr1:215853681 [GRCh37] Chr1:1q41 |
pathogenic|uncertain significance |
NM_206933.4(USH2A):c.10388-11T>C | single nucleotide variant | not provided [RCV003690562] | Chr1:215782946 [GRCh38] Chr1:215956288 [GRCh37] Chr1:1q41 |
likely benign |
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.9057G>A (p.Glu3019=) | single nucleotide variant | not provided [RCV003690793] | Chr1:215844495 [GRCh38] Chr1:216017837 [GRCh37] Chr1:1q41 |
likely benign |
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]|not provided [RCV003575107] | 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]|not provided [RCV003699114] | 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]|not provided [RCV003549103] | Chr1:216289317..216289324 [GRCh38] Chr1:216462659..216462666 [GRCh37] Chr1:1q41 |
pathogenic|likely pathogenic |
NM_206933.4(USH2A):c.486-4_486-2del | deletion | Retinitis pigmentosa 39 [RCV003464840]|not provided [RCV003575108] | 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.5582G>T (p.Gly1861Val) | single nucleotide variant | not provided [RCV003579377] | Chr1:216073291 [GRCh38] Chr1:216246633 [GRCh37] Chr1:1q41 |
likely pathogenic |
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.14343+7A>G | single nucleotide variant | not provided [RCV003695113] | Chr1:215650585 [GRCh38] Chr1:215823927 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10569dup (p.Pro3524fs) | duplication | not provided [RCV003696109] | Chr1:215782753..215782754 [GRCh38] Chr1:215956095..215956096 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.12846G>A (p.Leu4282=) | single nucleotide variant | not provided [RCV003696359] | Chr1:215675065 [GRCh38] Chr1:215848407 [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.201T>A (p.Cys67Ter) | single nucleotide variant | not provided [RCV003696128] | Chr1:216422136 [GRCh38] Chr1:216595478 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4272C>T (p.Ser1424=) | single nucleotide variant | not provided [RCV003696701] | Chr1:216190347 [GRCh38] Chr1:216363689 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2370C>G (p.Thr790=) | single nucleotide variant | not provided [RCV003695302] | Chr1:216247024 [GRCh38] Chr1:216420366 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12394C>T (p.Leu4132=) | single nucleotide variant | not provided [RCV003739758] | Chr1:215675517 [GRCh38] Chr1:215848859 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10218T>C (p.Ser3406=) | single nucleotide variant | not provided [RCV003579086] | Chr1:215786839 [GRCh38] Chr1:215960181 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14791+13G>T | single nucleotide variant | not provided [RCV003849265] | Chr1:215647509 [GRCh38] Chr1:215820851 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6486-10C>T | single nucleotide variant | not provided [RCV003825230] | Chr1:215999068 [GRCh38] Chr1:216172410 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6658-19T>A | single nucleotide variant | not provided [RCV003738883] | Chr1:215993186 [GRCh38] Chr1:216166528 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11048-11A>G | single nucleotide variant | not provided [RCV003738978] | Chr1:215759854 [GRCh38] Chr1:215933196 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4059C>T (p.Val1353=) | single nucleotide variant | not provided [RCV003692242] | Chr1:216198337 [GRCh38] Chr1:216371679 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12873T>G (p.Ser4291=) | single nucleotide variant | not provided [RCV003693375] | Chr1:215675038 [GRCh38] Chr1:215848380 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3812-14T>C | single nucleotide variant | not provided [RCV003692301] | Chr1:216198598 [GRCh38] Chr1:216371940 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12237T>C (p.Asn4079=) | single nucleotide variant | not provided [RCV003827169] | Chr1:215680206 [GRCh38] Chr1:215853548 [GRCh37] Chr1:1q41 |
likely benign |
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.4245T>C (p.Phe1415=) | single nucleotide variant | not provided [RCV003693419] | Chr1:216196559 [GRCh38] Chr1:216369901 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8681+20A>C | single nucleotide variant | not provided [RCV003577262] | Chr1:215877738 [GRCh38] Chr1:216051080 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2994-16T>C | single nucleotide variant | not provided [RCV003740343] | Chr1:216217566 [GRCh38] Chr1:216390908 [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.257A>T (p.Gln86Leu) | single nucleotide variant | Usher syndrome type 2A [RCV003881686] | Chr1:216422080 [GRCh38] Chr1:216595422 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5167+9C>T | single nucleotide variant | not provided [RCV003694662] | Chr1:216084689 [GRCh38] Chr1:216258031 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.233del (p.Phe78fs) | deletion | not provided [RCV003692481] | Chr1:216422104 [GRCh38] Chr1:216595446 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.54A>G (p.Glu18=) | single nucleotide variant | not provided [RCV003694905] | Chr1:216422283 [GRCh38] Chr1:216595625 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10586-11G>C | single nucleotide variant | not provided [RCV003692443] | Chr1:215782207 [GRCh38] Chr1:215955549 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1476_1491del (p.Tyr493fs) | deletion | not provided [RCV003693523] | Chr1:216323533..216323548 [GRCh38] Chr1:216496875..216496890 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3435A>G (p.Pro1145=) | single nucleotide variant | not provided [RCV003826400] | Chr1:216200003 [GRCh38] Chr1:216373345 [GRCh37] Chr1:1q41 |
likely benign |
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.8682-12del | deletion | not provided [RCV003695747] | Chr1:215867182 [GRCh38] Chr1:216040524 [GRCh37] Chr1:1q41 |
benign |
NM_206933.4(USH2A):c.12351T>C (p.Phe4117=) | single nucleotide variant | not provided [RCV003695018] | Chr1:215675560 [GRCh38] Chr1:215848902 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12295-13T>C | single nucleotide variant | not provided [RCV003579319] | Chr1:215675629 [GRCh38] Chr1:215848971 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7300+1G>T | single nucleotide variant | not provided [RCV003827601] | Chr1:215934615 [GRCh38] Chr1:216107957 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.14465T>C (p.Leu4822Pro) | single nucleotide variant | not provided [RCV003577901] | Chr1:215648645 [GRCh38] Chr1:215821987 [GRCh37] Chr1:1q41 |
uncertain significance |
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.10939+293A>T | single nucleotide variant | not provided [RCV003491843] | Chr1:215779550 [GRCh38] Chr1:215952892 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.15492A>G (p.Glu5164=) | single nucleotide variant | not provided [RCV003694884] | Chr1:215628841 [GRCh38] Chr1:215802183 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3073C>T (p.Gln1025Ter) | single nucleotide variant | not provided [RCV003692878] | Chr1:216217471 [GRCh38] Chr1:216390813 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7455A>G (p.Leu2485=) | single nucleotide variant | not provided [RCV003696249] | Chr1:215900214 [GRCh38] Chr1:216073556 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13332A>G (p.Pro4444=) | single nucleotide variant | not provided [RCV003696309] | Chr1:215674579 [GRCh38] Chr1:215847921 [GRCh37] Chr1:1q41 |
likely benign |
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.681C>A (p.Ile227=) | single nucleotide variant | not provided [RCV003696272] | Chr1:216365056 [GRCh38] Chr1:216538398 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6744A>G (p.Lys2248=) | single nucleotide variant | not provided [RCV003579016] | Chr1:215993081 [GRCh38] Chr1:216166423 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6981T>G (p.Ala2327=) | single nucleotide variant | not provided [RCV003579175] | Chr1:215965456 [GRCh38] Chr1:216138798 [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.13464A>G (p.Thr4488=) | single nucleotide variant | not provided [RCV003830092] | Chr1:215674447 [GRCh38] Chr1:215847789 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14742G>A (p.Glu4914=) | single nucleotide variant | not provided [RCV003692948] | Chr1:215647571 [GRCh38] Chr1:215820913 [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.2670C>A (p.Thr890=) | single nucleotide variant | not provided [RCV003738784] | Chr1:216246724 [GRCh38] Chr1:216420066 [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.2994-1G>A | single nucleotide variant | not provided [RCV003694851] | Chr1:216217551 [GRCh38] Chr1:216390893 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.14161del (p.Ala4721fs) | deletion | not provided [RCV003738954] | Chr1:215650774 [GRCh38] Chr1:215824116 [GRCh37] Chr1:1q41 |
pathogenic |
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.8195_8199dup (p.Val2734Ter) | duplication | not provided [RCV003489488] | Chr1:215888449..215888450 [GRCh38] Chr1:216061791..216061792 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.9399A>G (p.Pro3133=) | single nucleotide variant | not provided [RCV003693082] | Chr1:215817168 [GRCh38] Chr1:215990510 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5572+20A>T | single nucleotide variant | not provided [RCV003829198] | Chr1:216078069 [GRCh38] Chr1:216251411 [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.12302A>T (p.Asn4101Ile) | single nucleotide variant | not provided [RCV003828081] | Chr1:215675609 [GRCh38] Chr1:215848951 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8224-11T>A | single nucleotide variant | not provided [RCV003828127] | Chr1:215879109 [GRCh38] Chr1:216052451 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14792-20del | deletion | not provided [RCV003695404] | Chr1:215640754 [GRCh38] Chr1:215814096 [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.2316C>A (p.Ala772=) | single nucleotide variant | not provided [RCV003694320] | Chr1:216247078 [GRCh38] Chr1:216420420 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12321C>T (p.Phe4107=) | single nucleotide variant | not provided [RCV003577041] | Chr1:215675590 [GRCh38] Chr1:215848932 [GRCh37] Chr1:1q41 |
likely benign |
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.7677C>T (p.Ser2559=) | single nucleotide variant | not provided [RCV003576473] | Chr1:215888972 [GRCh38] Chr1:216062314 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.848+13T>C | single nucleotide variant | not provided [RCV003695535] | Chr1:216327578 [GRCh38] Chr1:216500920 [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.13436T>G (p.Leu4479Arg) | single nucleotide variant | not provided [RCV003827599] | Chr1:215674475 [GRCh38] Chr1:215847817 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.11256A>G (p.Lys3752=) | single nucleotide variant | not provided [RCV003694079] | Chr1:215758728 [GRCh38] Chr1:215932070 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3317-14T>C | single nucleotide variant | not provided [RCV003739150] | Chr1:216200135 [GRCh38] Chr1:216373477 [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.11601A>C (p.Pro3867=) | single nucleotide variant | not provided [RCV003692699] | Chr1:215741485 [GRCh38] Chr1:215914827 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14532_14535del (p.Ala4845fs) | deletion | not provided [RCV003694638] | Chr1:215648575..215648578 [GRCh38] Chr1:215821917..215821920 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.12641del (p.Thr4214fs) | deletion | not provided [RCV003577483] | Chr1:215675270 [GRCh38] Chr1:215848612 [GRCh37] Chr1:1q41 |
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.3876G>A (p.Glu1292=) | single nucleotide variant | not provided [RCV003691283] | Chr1:216198520 [GRCh38] Chr1:216371862 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.321C>T (p.Ser107=) | single nucleotide variant | not provided [RCV003691983] | Chr1:216422016 [GRCh38] Chr1:216595358 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11421C>A (p.Tyr3807Ter) | single nucleotide variant | not provided [RCV003692721] | Chr1:215743304 [GRCh38] Chr1:215916646 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1341T>C (p.Tyr447=) | single nucleotide variant | not provided [RCV003695210] | Chr1:216323683 [GRCh38] Chr1:216497025 [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.15435C>T (p.Val5145=) | single nucleotide variant | not provided [RCV003695725] | Chr1:215628898 [GRCh38] Chr1:215802240 [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.1980A>G (p.Gly660=) | single nucleotide variant | not provided [RCV003691465] | Chr1:216251090 [GRCh38] Chr1:216424432 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.785-4G>T | single nucleotide variant | not provided [RCV003693975] | Chr1:216327658 [GRCh38] Chr1:216501000 [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.9958+13G>C | single nucleotide variant | not provided [RCV003692886] | Chr1:215798894 [GRCh38] Chr1:215972236 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1328+1G>C | single nucleotide variant | not provided [RCV003577903] | Chr1:216324167 [GRCh38] Chr1:216497509 [GRCh37] Chr1:1q41 |
pathogenic |
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.6225_6227del (p.Trp2075_Asn2076delinsCys) | deletion | not provided [RCV003827207] | Chr1:216046529..216046531 [GRCh38] Chr1:216219871..216219873 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2209C>A (p.Arg737=) | single nucleotide variant | not provided [RCV003693477] | Chr1:216247185 [GRCh38] Chr1:216420527 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12419G>C (p.Cys4140Ser) | single nucleotide variant | not provided [RCV003829067] | Chr1:215675492 [GRCh38] Chr1:215848834 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.9959-15A>G | single nucleotide variant | not provided [RCV003830655] | Chr1:215790297 [GRCh38] Chr1:215963639 [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.4396+2T>C | single nucleotide variant | not provided [RCV003578429] | Chr1:216190221 [GRCh38] Chr1:216363563 [GRCh37] Chr1:1q41 |
pathogenic |
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.1233C>A (p.Asp411Glu) | single nucleotide variant | Usher syndrome type 2A [RCV003881688] | Chr1:216324263 [GRCh38] Chr1:216497605 [GRCh37] Chr1:1q41 |
uncertain significance |
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.13553T>C (p.Ile4518Thr) | single nucleotide variant | not provided [RCV003694733] | Chr1:215674358 [GRCh38] Chr1:215847700 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.20C>G (p.Ser7Ter) | single nucleotide variant | not provided [RCV003579080] | Chr1:216422317 [GRCh38] Chr1:216595659 [GRCh37] Chr1:1q41 |
pathogenic |
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.396C>T (p.His132=) | single nucleotide variant | not provided [RCV003577906] | Chr1:216421941 [GRCh38] Chr1:216595283 [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.2232T>A (p.Cys744Ter) | single nucleotide variant | not provided [RCV003576700] | Chr1:216247162 [GRCh38] Chr1:216420504 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.6163+17G>C | single nucleotide variant | not provided [RCV003694326] | Chr1:216048517 [GRCh38] Chr1:216221859 [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.14583-19G>C | single nucleotide variant | not provided [RCV003825569] | Chr1:215647749 [GRCh38] Chr1:215821091 [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.785-11T>G | single nucleotide variant | not provided [RCV003577185] | Chr1:216327665 [GRCh38] Chr1:216501007 [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.5167+16A>G | single nucleotide variant | not provided [RCV003694047] | Chr1:216084682 [GRCh38] Chr1:216258024 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.651+7A>C | single nucleotide variant | not provided [RCV003695914] | Chr1:216418507 [GRCh38] Chr1:216591849 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1644+20T>C | single nucleotide variant | not provided [RCV003739644] | Chr1:216321863 [GRCh38] Chr1:216495205 [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.8845+20C>T | single nucleotide variant | not provided [RCV003696101] | Chr1:215866987 [GRCh38] Chr1:216040329 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6790C>G (p.Pro2264Ala) | single nucleotide variant | not provided [RCV003578960] | Chr1:215993035 [GRCh38] Chr1:216166377 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.3611del (p.Thr1203_Ser1204insTer) | deletion | not provided [RCV003692869] | Chr1:216199827 [GRCh38] Chr1:216373169 [GRCh37] Chr1:1q41 |
pathogenic |
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.11185A>C (p.Ser3729Arg) | single nucleotide variant | not provided [RCV003694111] | Chr1:215759706 [GRCh38] Chr1:215933048 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.6657+15_6657+16del | deletion | not provided [RCV003577660] | Chr1:215998871..215998872 [GRCh38] Chr1:216172213..216172214 [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.4252-36CTTT[3] | microsatellite | not provided [RCV003739280] | Chr1:216190380..216190391 [GRCh38] Chr1:216363722..216363733 [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.652-13T>C | single nucleotide variant | not provided [RCV003578083] | Chr1:216365098 [GRCh38] Chr1:216538440 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5946T>C (p.Gly1982=) | single nucleotide variant | not provided [RCV003696172] | Chr1:216070204 [GRCh38] Chr1:216243546 [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.10857C>A (p.Val3619=) | single nucleotide variant | not provided [RCV003578764] | Chr1:215779925 [GRCh38] Chr1:215953267 [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.13187_13188del (p.Lys4396fs) | deletion | not provided [RCV003576932] | Chr1:215674723..215674724 [GRCh38] Chr1:215848065..215848066 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.12085del (p.His4029fs) | deletion | not provided [RCV003577447] | Chr1:215680358 [GRCh38] Chr1:215853700 [GRCh37] Chr1:1q41 |
pathogenic |
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.1407C>T (p.Asn469=) | single nucleotide variant | not provided [RCV003577038] | Chr1:216323617 [GRCh38] Chr1:216496959 [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.2168-11T>C | single nucleotide variant | not provided [RCV003692629] | Chr1:216247237 [GRCh38] Chr1:216420579 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13763del (p.Ser4588fs) | deletion | not provided [RCV003693549] | Chr1:215674148 [GRCh38] Chr1:215847490 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.2865A>C (p.Thr955=) | single nucleotide variant | not provided [RCV003690909] | Chr1:216232081 [GRCh38] Chr1:216405423 [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.3228A>G (p.Pro1076=) | single nucleotide variant | not provided [RCV003692227] | Chr1:216207361 [GRCh38] Chr1:216380703 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12120C>A (p.Arg4040=) | single nucleotide variant | not provided [RCV003692635] | Chr1:215680323 [GRCh38] Chr1:215853665 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14134-20T>C | single nucleotide variant | not provided [RCV003880939] | Chr1:215650821 [GRCh38] Chr1:215824163 [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.13202G>A (p.Gly4401Asp) | single nucleotide variant | not provided [RCV003827600] | Chr1:215674709 [GRCh38] Chr1:215848051 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.864C>T (p.Val288=) | single nucleotide variant | not provided [RCV003882089] | Chr1:216325584 [GRCh38] Chr1:216498926 [GRCh37] Chr1:1q41 |
likely benign |
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.14582+12G>A | single nucleotide variant | not provided [RCV003882074] | Chr1:215648516 [GRCh38] Chr1:215821858 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7321C>G (p.Pro2441Ala) | single nucleotide variant | not provided [RCV003491844] | Chr1:215900885 [GRCh38] Chr1:216074227 [GRCh37] Chr1:1q41 |
uncertain significance |
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.763C>T (p.Gln255Ter) | single nucleotide variant | not provided [RCV003693476] | Chr1:216364974 [GRCh38] Chr1:216538316 [GRCh37] Chr1:1q41 |
pathogenic |
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.11389+17del | deletion | not provided [RCV003693245] | Chr1:215758578 [GRCh38] Chr1:215931920 [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.1473_1474delinsTT (p.Gln492Ter) | indel | not provided [RCV003693524] | Chr1:216323550..216323551 [GRCh38] Chr1:216496892..216496893 [GRCh37] Chr1:1q41 |
pathogenic |
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.10939+20G>A | single nucleotide variant | not provided [RCV003827439] | Chr1:215779823 [GRCh38] Chr1:215953165 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14838G>A (p.Val4946=) | single nucleotide variant | not provided [RCV003693486] | Chr1:215640688 [GRCh38] Chr1:215814030 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.785-12G>A | single nucleotide variant | not provided [RCV003576319] | Chr1:216327666 [GRCh38] Chr1:216501008 [GRCh37] Chr1:1q41 |
likely benign |
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.5573-15C>G | single nucleotide variant | not provided [RCV003576328] | Chr1:216073315 [GRCh38] Chr1:216246657 [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 |
NM_206933.4(USH2A):c.6789G>A (p.Glu2263=) | single nucleotide variant | not provided [RCV003549702] | Chr1:215993036 [GRCh38] Chr1:216166378 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4104T>C (p.Pro1368=) | single nucleotide variant | not provided [RCV003717789] | Chr1:216196700 [GRCh38] Chr1:216370042 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15249G>A (p.Gln5083=) | single nucleotide variant | not provided [RCV003716806] | Chr1:215634507 [GRCh38] Chr1:215807849 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14344-12T>C | single nucleotide variant | not provided [RCV003665230] | Chr1:215648778 [GRCh38] Chr1:215822120 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11881_11882del (p.Leu3961fs) | microsatellite | not provided [RCV003580559] | Chr1:215728214..215728215 [GRCh38] Chr1:215901556..215901557 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7188G>A (p.Trp2396Ter) | single nucleotide variant | not provided [RCV003665457] | Chr1:215934728 [GRCh38] Chr1:216108070 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.11811_11812del (p.Tyr3938fs) | microsatellite | Retinal dystrophy [RCV003889313]|not provided [RCV003665455] | Chr1:215728284..215728285 [GRCh38] Chr1:215901626..215901627 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.12654T>C (p.Thr4218=) | single nucleotide variant | not provided [RCV003716931] | Chr1:215675257 [GRCh38] Chr1:215848599 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12067-17T>C | single nucleotide variant | not provided [RCV003550063] | Chr1:215680393 [GRCh38] Chr1:215853735 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7300+15A>T | single nucleotide variant | not provided [RCV003850541] | Chr1:215934601 [GRCh38] Chr1:216107943 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10209C>A (p.Cys3403Ter) | single nucleotide variant | not provided [RCV003550165] | Chr1:215786848 [GRCh38] Chr1:215960190 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1644+13T>G | single nucleotide variant | not provided [RCV003835092] | Chr1:216321870 [GRCh38] Chr1:216495212 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11655T>A (p.Ile3885=) | single nucleotide variant | not provided [RCV003550184] | Chr1:215741431 [GRCh38] Chr1:215914773 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1841-20A>G | single nucleotide variant | not provided [RCV003579872] | Chr1:216289430 [GRCh38] Chr1:216462772 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2733del (p.Ile912fs) | deletion | not provided [RCV003580939] | Chr1:216246661 [GRCh38] Chr1:216420003 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4887T>C (p.Gly1629=) | single nucleotide variant | not provided [RCV003549393] | Chr1:216086819 [GRCh38] Chr1:216260161 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6752C>G (p.Ser2251Ter) | single nucleotide variant | not provided [RCV003699177] | Chr1:215993073 [GRCh38] Chr1:216166415 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9123A>C (p.Thr3041=) | single nucleotide variant | not provided [RCV003665820] | Chr1:215844429 [GRCh38] Chr1:216017771 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6477A>C (p.Ile2159=) | single nucleotide variant | not provided [RCV003664666] | Chr1:216000411 [GRCh38] Chr1:216173753 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5635del (p.Val1879fs) | deletion | not provided [RCV003699204] | Chr1:216073238 [GRCh38] Chr1:216246580 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3811+19_3811+20del | microsatellite | not provided [RCV003810657] | Chr1:216199607..216199608 [GRCh38] Chr1:216372949..216372950 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10281G>C (p.Val3427=) | single nucleotide variant | not provided [RCV003698125] | Chr1:215786776 [GRCh38] Chr1:215960118 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9816G>T (p.Pro3272=) | single nucleotide variant | not provided [RCV003663810] | Chr1:215799049 [GRCh38] Chr1:215972391 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10939+16A>G | single nucleotide variant | not provided [RCV003549389] | Chr1:215779827 [GRCh38] Chr1:215953169 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6658-7dup | duplication | not provided [RCV003697293] | Chr1:215993173..215993174 [GRCh38] Chr1:216166515..216166516 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.828C>T (p.Tyr276=) | single nucleotide variant | not provided [RCV003663816] | Chr1:216327611 [GRCh38] Chr1:216500953 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3402A>T (p.Thr1134=) | single nucleotide variant | not provided [RCV003664005] | Chr1:216200036 [GRCh38] Chr1:216373378 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1645-18T>C | single nucleotide variant | not provided [RCV003849842] | Chr1:216292388 [GRCh38] Chr1:216465730 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1506C>T (p.Leu502=) | single nucleotide variant | not provided [RCV003717518] | Chr1:216323518 [GRCh38] Chr1:216496860 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7124G>T (p.Gly2375Val) | single nucleotide variant | not provided [RCV003698273] | Chr1:215934792 [GRCh38] Chr1:216108134 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13019G>A (p.Gly4340Glu) | single nucleotide variant | not provided [RCV003557990] | Chr1:215674892 [GRCh38] Chr1:215848234 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.1841-17A>T | single nucleotide variant | not provided [RCV003832646] | Chr1:216289427 [GRCh38] Chr1:216462769 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3270C>A (p.Leu1090=) | single nucleotide variant | not provided [RCV003835804] | Chr1:216207319 [GRCh38] Chr1:216380661 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3123C>T (p.His1041=) | single nucleotide variant | not provided [RCV003580269] | Chr1:216217421 [GRCh38] Chr1:216390763 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1551-5T>C | single nucleotide variant | not provided [RCV003852158] | Chr1:216321981 [GRCh38] Chr1:216495323 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14841G>A (p.Val4947=) | single nucleotide variant | not provided [RCV003839570] | Chr1:215640685 [GRCh38] Chr1:215814027 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6759A>G (p.Ser2253=) | single nucleotide variant | not provided [RCV003669631] | Chr1:215993066 [GRCh38] Chr1:216166408 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11265T>C (p.Gly3755=) | single nucleotide variant | not provided [RCV003702851] | Chr1:215758719 [GRCh38] Chr1:215932061 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8457del (p.Val2820fs) | deletion | not provided [RCV003702493] | Chr1:215878865 [GRCh38] Chr1:216052207 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4759-15A>C | single nucleotide variant | not provided [RCV003855584] | Chr1:216089154 [GRCh38] Chr1:216262496 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9055+8C>A | single nucleotide variant | not provided [RCV003856626] | Chr1:215845816 [GRCh38] Chr1:216019158 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3157+17T>C | single nucleotide variant | not provided [RCV003549517] | Chr1:216217370 [GRCh38] Chr1:216390712 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10779C>A (p.Ile3593=) | single nucleotide variant | not provided [RCV003673297] | Chr1:215780003 [GRCh38] Chr1:215953345 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11548+16A>C | single nucleotide variant | not provided [RCV003726775] | Chr1:215743161 [GRCh38] Chr1:215916503 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15075_15076delinsCG (p.Lys5026Glu) | indel | not provided [RCV003559505] | Chr1:215634680..215634681 [GRCh38] Chr1:215808022..215808023 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5573-17C>T | single nucleotide variant | not provided [RCV003579608] | Chr1:216073317 [GRCh38] Chr1:216246659 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1972-12dup | duplication | not provided [RCV003717330] | Chr1:216251109..216251110 [GRCh38] Chr1:216424451..216424452 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5487G>A (p.Gln1829=) | single nucleotide variant | not provided [RCV003665369] | Chr1:216078174 [GRCh38] Chr1:216251516 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10515T>C (p.Pro3505=) | single nucleotide variant | not provided [RCV003561914] | Chr1:215782808 [GRCh38] Chr1:215956150 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3252G>A (p.Trp1084Ter) | single nucleotide variant | not provided [RCV003700254] | Chr1:216207337 [GRCh38] Chr1:216380679 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8682-19del | deletion | not provided [RCV003672228] | Chr1:215867189 [GRCh38] Chr1:216040531 [GRCh37] Chr1:1q41 |
benign |
NM_206933.4(USH2A):c.14792-15A>G | single nucleotide variant | not provided [RCV003740376] | Chr1:215640749 [GRCh38] Chr1:215814091 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15312C>T (p.Thr5104=) | single nucleotide variant | not provided [RCV003580102] | Chr1:215629021 [GRCh38] Chr1:215802363 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2993+20A>C | single nucleotide variant | not provided [RCV003548032] | Chr1:216231933 [GRCh38] Chr1:216405275 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6801G>T (p.Pro2267=) | single nucleotide variant | not provided [RCV003723386] | Chr1:215993024 [GRCh38] Chr1:216166366 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6705_6708del (p.Asp2237fs) | deletion | not provided [RCV003559964] | Chr1:215993117..215993120 [GRCh38] Chr1:216166459..216166462 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3147T>C (p.Gly1049=) | single nucleotide variant | not provided [RCV003548133] | Chr1:216217397 [GRCh38] Chr1:216390739 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4886-8T>G | single nucleotide variant | not provided [RCV003580735] | Chr1:216086828 [GRCh38] Chr1:216260170 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10388-12T>C | single nucleotide variant | not provided [RCV003703462] | Chr1:215782947 [GRCh38] Chr1:215956289 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.784+11G>A | single nucleotide variant | not provided [RCV003849402] | Chr1:216364942 [GRCh38] Chr1:216538284 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4397-1del | deletion | not provided [RCV003697435] | Chr1:216175483 [GRCh38] Chr1:216348825 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.13854A>G (p.Ala4618=) | single nucleotide variant | Retinal dystrophy [RCV003889314]|not provided [RCV003659459] | Chr1:215671251 [GRCh38] Chr1:215844593 [GRCh37] Chr1:1q41 |
likely benign|uncertain significance |
NM_206933.4(USH2A):c.14344-16T>C | single nucleotide variant | not provided [RCV003665420] | Chr1:215648782 [GRCh38] Chr1:215822124 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12415G>A (p.Gly4139Ser) | single nucleotide variant | not provided [RCV003670456] | Chr1:215675496 [GRCh38] Chr1:215848838 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.10290G>T (p.Gly3430=) | single nucleotide variant | not provided [RCV003700455] | Chr1:215786767 [GRCh38] Chr1:215960109 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13071A>G (p.Ser4357=) | single nucleotide variant | not provided [RCV003697416] | Chr1:215674840 [GRCh38] Chr1:215848182 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.195T>G (p.Thr65=) | single nucleotide variant | not provided [RCV003550192] | Chr1:216422142 [GRCh38] Chr1:216595484 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10701G>A (p.Leu3567=) | single nucleotide variant | not provided [RCV003703243] | Chr1:215782081 [GRCh38] Chr1:215955423 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9804T>C (p.Cys3268=) | single nucleotide variant | not provided [RCV003700515] | Chr1:215799061 [GRCh38] Chr1:215972403 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6485+20C>G | single nucleotide variant | not provided [RCV003837244] | Chr1:216000383 [GRCh38] Chr1:216173725 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1551-1G>A | single nucleotide variant | not provided [RCV003665611] | Chr1:216321977 [GRCh38] Chr1:216495319 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.12066+3_12066+4del | deletion | not provided [RCV003851625] | Chr1:215728026..215728027 [GRCh38] Chr1:215901368..215901369 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5187A>C (p.Pro1729=) | single nucleotide variant | not provided [RCV003671552] | Chr1:216083567 [GRCh38] Chr1:216256909 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1840+17T>A | single nucleotide variant | not provided [RCV003549697] | Chr1:216292158 [GRCh38] Chr1:216465500 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6552A>G (p.Thr2184=) | single nucleotide variant | not provided [RCV003701991] | Chr1:215998992 [GRCh38] Chr1:216172334 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10683G>A (p.Gln3561=) | single nucleotide variant | not provided [RCV003674253] | Chr1:215782099 [GRCh38] Chr1:215955441 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9259-19dup | duplication | not provided [RCV003562086] | Chr1:215838121..215838122 [GRCh38] Chr1:216011463..216011464 [GRCh37] Chr1:1q41 |
benign |
NM_206933.4(USH2A):c.2850A>T (p.Pro950=) | single nucleotide variant | not provided [RCV003703732] | Chr1:216232096 [GRCh38] Chr1:216405438 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7594+20C>T | single nucleotide variant | not provided [RCV003560442] | Chr1:215900055 [GRCh38] Chr1:216073397 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.652-15_652-13del | microsatellite | not provided [RCV003702167] | Chr1:216365098..216365100 [GRCh38] Chr1:216538440..216538442 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13158T>C (p.Ile4386=) | single nucleotide variant | not provided [RCV003548213] | Chr1:215674753 [GRCh38] Chr1:215848095 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8845+14T>C | single nucleotide variant | not provided [RCV003665170] | Chr1:215866993 [GRCh38] Chr1:216040335 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5307G>C (p.Leu1769=) | single nucleotide variant | not provided [RCV003697160] | Chr1:216078354 [GRCh38] Chr1:216251696 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13524dup (p.Val4509fs) | duplication | not provided [RCV003697652] | Chr1:215674386..215674387 [GRCh38] Chr1:215847728..215847729 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.12253dup (p.Leu4085fs) | duplication | not provided [RCV003697665] | Chr1:215680189..215680190 [GRCh38] Chr1:215853531..215853532 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.6657+12T>C | single nucleotide variant | not provided [RCV003833232] | Chr1:215998875 [GRCh38] Chr1:216172217 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3316+9_3316+16del | deletion | not provided [RCV003549850] | Chr1:216207257..216207264 [GRCh38] Chr1:216380599..216380606 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4941T>C (p.Phe1647=) | single nucleotide variant | not provided [RCV003561845] | Chr1:216086765 [GRCh38] Chr1:216260107 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8223+11_8223+14del | deletion | not provided [RCV003856697] | Chr1:215888412..215888415 [GRCh38] Chr1:216061754..216061757 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9447A>G (p.Thr3149=) | single nucleotide variant | not provided [RCV003579919] | Chr1:215817120 [GRCh38] Chr1:215990462 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10585+9A>T | single nucleotide variant | not provided [RCV003834720] | Chr1:215782729 [GRCh38] Chr1:215956071 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12066+12del | deletion | not provided [RCV003855592] | Chr1:215728018 [GRCh38] Chr1:215901360 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1972-14_1972-12del | microsatellite | not provided [RCV003557820] | Chr1:216251110..216251112 [GRCh38] Chr1:216424452..216424454 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6561T>C (p.Phe2187=) | single nucleotide variant | not provided [RCV003668969] | Chr1:215998983 [GRCh38] Chr1:216172325 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3847C>T (p.Leu1283=) | single nucleotide variant | not provided [RCV003702399] | Chr1:216198549 [GRCh38] Chr1:216371891 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6658-6G>C | single nucleotide variant | not provided [RCV003673553] | Chr1:215993173 [GRCh38] Chr1:216166515 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8238C>T (p.Pro2746=) | single nucleotide variant | not provided [RCV003672299] | Chr1:215879084 [GRCh38] Chr1:216052426 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14968+18G>A | single nucleotide variant | not provided [RCV003855014] | Chr1:215640540 [GRCh38] Chr1:215813882 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6486-17T>G | single nucleotide variant | not provided [RCV003740430] | Chr1:215999075 [GRCh38] Chr1:216172417 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5858-15T>G | single nucleotide variant | not provided [RCV003703313] | Chr1:216070307 [GRCh38] Chr1:216243649 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9259-5T>G | single nucleotide variant | not provided [RCV003700834] | Chr1:215838108 [GRCh38] Chr1:216011450 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4886-6C>G | single nucleotide variant | not provided [RCV003561552] | Chr1:216086826 [GRCh38] Chr1:216260168 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11472T>C (p.Gly3824=) | single nucleotide variant | not provided [RCV003667692] | Chr1:215743253 [GRCh38] Chr1:215916595 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1242T>C (p.Tyr414=) | single nucleotide variant | not provided [RCV003560490] | Chr1:216324254 [GRCh38] Chr1:216497596 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9318G>A (p.Val3106=) | single nucleotide variant | not provided [RCV003673209] | Chr1:215838044 [GRCh38] Chr1:216011386 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1645-2A>T | single nucleotide variant | not provided [RCV003580684] | Chr1:216292372 [GRCh38] Chr1:216465714 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8223+19T>C | single nucleotide variant | not provided [RCV003856087] | Chr1:215888407 [GRCh38] Chr1:216061749 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6806-11T>C | single nucleotide variant | not provided [RCV003856315] | Chr1:215970787 [GRCh38] Chr1:216144129 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7076T>A (p.Leu2359Ter) | single nucleotide variant | not provided [RCV003561905] | Chr1:215965361 [GRCh38] Chr1:216138703 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9015C>T (p.Ser3005=) | single nucleotide variant | not provided [RCV003674172] | Chr1:215845864 [GRCh38] Chr1:216019206 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11301A>G (p.Thr3767=) | single nucleotide variant | not provided [RCV003558342] | Chr1:215758683 [GRCh38] Chr1:215932025 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12933T>C (p.Phe4311=) | single nucleotide variant | not provided [RCV003723160] | Chr1:215674978 [GRCh38] Chr1:215848320 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5802G>C (p.Ser1934=) | single nucleotide variant | not provided [RCV003835890] | Chr1:216072944 [GRCh38] Chr1:216246286 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11047+20G>A | single nucleotide variant | not provided [RCV003548173] | Chr1:215766661 [GRCh38] Chr1:215940003 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6303T>C (p.Ser2101=) | single nucleotide variant | not provided [RCV003549195] | Chr1:216046453 [GRCh38] Chr1:216219795 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13368C>T (p.Gly4456=) | single nucleotide variant | not provided [RCV003703311] | Chr1:215674543 [GRCh38] Chr1:215847885 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11226T>C (p.Asn3742=) | single nucleotide variant | not provided [RCV003723220] | Chr1:215759665 [GRCh38] Chr1:215933007 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6231A>C (p.Pro2077=) | single nucleotide variant | not provided [RCV003549347] | Chr1:216046525 [GRCh38] Chr1:216219867 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3158-12A>T | single nucleotide variant | not provided [RCV003673869] | Chr1:216207443 [GRCh38] Chr1:216380785 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6369C>A (p.Cys2123Ter) | single nucleotide variant | not provided [RCV003723976] | Chr1:216000519 [GRCh38] Chr1:216173861 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.14791+12T>C | single nucleotide variant | not provided [RCV003723871] | Chr1:215647510 [GRCh38] Chr1:215820852 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5398T>C (p.Trp1800Arg) | single nucleotide variant | not provided [RCV003724206] | Chr1:216078263 [GRCh38] Chr1:216251605 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.11389+14_11389+17del | deletion | not provided [RCV003854775] | Chr1:215758578..215758581 [GRCh38] Chr1:215931920..215931923 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8178G>T (p.Gly2726=) | single nucleotide variant | not provided [RCV003855130] | Chr1:215888471 [GRCh38] Chr1:216061813 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4377A>C (p.Ala1459=) | single nucleotide variant | not provided [RCV003702671] | Chr1:216190242 [GRCh38] Chr1:216363584 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4566C>T (p.Phe1522=) | single nucleotide variant | not provided [RCV003549461] | Chr1:216175313 [GRCh38] Chr1:216348655 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8076A>G (p.Pro2692=) | single nucleotide variant | not provided [RCV003725653] | Chr1:215888573 [GRCh38] Chr1:216061915 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.402C>T (p.Ser134=) | single nucleotide variant | not provided [RCV003724053] | Chr1:216421935 [GRCh38] Chr1:216595277 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11048-20C>T | single nucleotide variant | not provided [RCV003724276] | Chr1:215759863 [GRCh38] Chr1:215933205 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14124T>C (p.Tyr4708=) | single nucleotide variant | not provided [RCV003560112] | Chr1:215670981 [GRCh38] Chr1:215844323 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5181T>C (p.Leu1727=) | single nucleotide variant | not provided [RCV003697262] | Chr1:216083573 [GRCh38] Chr1:216256915 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9959-16C>A | single nucleotide variant | not provided [RCV003837603] | Chr1:215790298 [GRCh38] Chr1:215963640 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1644+13T>A | single nucleotide variant | not provided [RCV003725020] | Chr1:216321870 [GRCh38] Chr1:216495212 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12096G>T (p.Gly4032=) | single nucleotide variant | not provided [RCV003838968] | Chr1:215680347 [GRCh38] Chr1:215853689 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10932G>C (p.Thr3644=) | single nucleotide variant | not provided [RCV003560513] | Chr1:215779850 [GRCh38] Chr1:215953192 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3317-19T>C | single nucleotide variant | not provided [RCV003834568] | Chr1:216200140 [GRCh38] Chr1:216373482 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4806T>C (p.Tyr1602=) | single nucleotide variant | not provided [RCV003702548] | Chr1:216089092 [GRCh38] Chr1:216262434 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2994-17A>G | single nucleotide variant | not provided [RCV003673920] | Chr1:216217567 [GRCh38] Chr1:216390909 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14817G>T (p.Ser4939=) | single nucleotide variant | not provided [RCV003723294] | Chr1:215640709 [GRCh38] Chr1:215814051 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10530A>C (p.Ile3510=) | single nucleotide variant | not provided [RCV003669944] | Chr1:215782793 [GRCh38] Chr1:215956135 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.651+20_651+23del | deletion | not provided [RCV003725912] | Chr1:216418491..216418494 [GRCh38] Chr1:216591833..216591836 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3905G>A (p.Trp1302Ter) | single nucleotide variant | not provided [RCV003723404] | Chr1:216198491 [GRCh38] Chr1:216371833 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8780G>C (p.Arg2927Thr) | single nucleotide variant | not provided [RCV003668562] | Chr1:215867072 [GRCh38] Chr1:216040414 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7595-20G>A | single nucleotide variant | not provided [RCV003664007] | Chr1:215889074 [GRCh38] Chr1:216062416 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4647A>G (p.Arg1549=) | single nucleotide variant | not provided [RCV003561558] | Chr1:216097194 [GRCh38] Chr1:216270536 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2993+8T>A | single nucleotide variant | not provided [RCV003669604] | Chr1:216231945 [GRCh38] Chr1:216405287 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8224-1G>T | single nucleotide variant | not provided [RCV003700369] | Chr1:215879099 [GRCh38] Chr1:216052441 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3654T>C (p.Phe1218=) | single nucleotide variant | not provided [RCV003723434] | Chr1:216199784 [GRCh38] Chr1:216373126 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9411T>C (p.Asn3137=) | single nucleotide variant | not provided [RCV003560626] | Chr1:215817156 [GRCh38] Chr1:215990498 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3157+13T>C | single nucleotide variant | not provided [RCV003726008] | Chr1:216217374 [GRCh38] Chr1:216390716 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11232-18C>T | single nucleotide variant | not provided [RCV003669611] | Chr1:215758770 [GRCh38] Chr1:215932112 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1857G>A (p.Leu619=) | single nucleotide variant | not provided [RCV003673971] | Chr1:216289394 [GRCh38] Chr1:216462736 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2856A>G (p.Ser952=) | single nucleotide variant | not provided [RCV003669774] | Chr1:216232090 [GRCh38] Chr1:216405432 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5719del (p.Leu1907fs) | deletion | not provided [RCV003854233] | Chr1:216073154 [GRCh38] Chr1:216246496 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3417C>A (p.Val1139=) | single nucleotide variant | not provided [RCV003701882] | Chr1:216200021 [GRCh38] Chr1:216373363 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10183-10C>T | single nucleotide variant | not provided [RCV003669977] | Chr1:215786884 [GRCh38] Chr1:215960226 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7005G>A (p.Val2335=) | single nucleotide variant | not provided [RCV003668025] | Chr1:215965432 [GRCh38] Chr1:216138774 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4422G>A (p.Leu1474=) | single nucleotide variant | not provided [RCV003672269] | Chr1:216175457 [GRCh38] Chr1:216348799 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6657+10T>C | single nucleotide variant | not provided [RCV003673614] | Chr1:215998877 [GRCh38] Chr1:216172219 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4628-10G>A | single nucleotide variant | not provided [RCV003580483] | Chr1:216097223 [GRCh38] Chr1:216270565 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6958-16C>T | single nucleotide variant | not provided [RCV003814520] | Chr1:215965495 [GRCh38] Chr1:216138837 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15052+15_15052+19del | deletion | not provided [RCV003700692] | Chr1:215639136..215639140 [GRCh38] Chr1:215812478..215812482 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4627+9G>A | single nucleotide variant | not provided [RCV003700708] | Chr1:216175243 [GRCh38] Chr1:216348585 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1130del (p.Asn377fs) | deletion | not provided [RCV003701409] | Chr1:216325318 [GRCh38] Chr1:216498660 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7656C>T (p.Thr2552=) | single nucleotide variant | not provided [RCV003838631] | Chr1:215888993 [GRCh38] Chr1:216062335 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9285C>A (p.Cys3095Ter) | single nucleotide variant | not provided [RCV003668711] | Chr1:215838077 [GRCh38] Chr1:216011419 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.6375T>C (p.His2125=) | single nucleotide variant | not provided [RCV003701959] | Chr1:216000513 [GRCh38] Chr1:216173855 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4885+20T>C | single nucleotide variant | not provided [RCV003702348] | Chr1:216088993 [GRCh38] Chr1:216262335 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13806T>C (p.Phe4602=) | single nucleotide variant | not provided [RCV003855944] | Chr1:215674105 [GRCh38] Chr1:215847447 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9677G>A (p.Arg3226Gln) | single nucleotide variant | not provided [RCV003834959] | Chr1:215813798 [GRCh38] Chr1:215987140 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4396+13T>A | single nucleotide variant | not provided [RCV003839805] | Chr1:216190210 [GRCh38] Chr1:216363552 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14970del (p.Phe4991fs) | deletion | not provided [RCV003667252] | Chr1:215639237 [GRCh38] Chr1:215812579 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.6777C>A (p.Val2259=) | single nucleotide variant | not provided [RCV003723774] | Chr1:215993048 [GRCh38] Chr1:216166390 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10586-8T>G | single nucleotide variant | not provided [RCV003672176] | Chr1:215782204 [GRCh38] Chr1:215955546 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2509C>A (p.Arg837=) | single nucleotide variant | not provided [RCV003702056] | Chr1:216246885 [GRCh38] Chr1:216420227 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6049+19C>G | single nucleotide variant | not provided [RCV003559941] | Chr1:216070082 [GRCh38] Chr1:216243424 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3877G>T (p.Glu1293Ter) | single nucleotide variant | not provided [RCV003558326] | Chr1:216198519 [GRCh38] Chr1:216371861 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3030G>A (p.Leu1010=) | single nucleotide variant | not provided [RCV003724011] | Chr1:216217514 [GRCh38] Chr1:216390856 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1329-19G>T | single nucleotide variant | not provided [RCV003560410] | Chr1:216323714 [GRCh38] Chr1:216497056 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15244C>A (p.Leu5082Ile) | single nucleotide variant | not provided [RCV003665939] | Chr1:215634512 [GRCh38] Chr1:215807854 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.11124C>T (p.Pro3708=) | single nucleotide variant | not provided [RCV003666748] | Chr1:215759767 [GRCh38] Chr1:215933109 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2214C>T (p.Ser738=) | single nucleotide variant | not provided [RCV003672124] | Chr1:216247180 [GRCh38] Chr1:216420522 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4081+19A>C | single nucleotide variant | not provided [RCV003701981] | Chr1:216198296 [GRCh38] Chr1:216371638 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.579T>C (p.Gly193=) | single nucleotide variant | not provided [RCV003560767] | Chr1:216418586 [GRCh38] Chr1:216591928 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1991G>T (p.Cys664Phe) | single nucleotide variant | not provided [RCV003698625] | Chr1:216251079 [GRCh38] Chr1:216424421 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.4188G>T (p.Gly1396=) | single nucleotide variant | not provided [RCV003698628] | Chr1:216196616 [GRCh38] Chr1:216369958 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.849-14C>T | single nucleotide variant | not provided [RCV003666801] | Chr1:216325613 [GRCh38] Chr1:216498955 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11389+18G>T | single nucleotide variant | not provided [RCV003814239] | Chr1:215758577 [GRCh38] Chr1:215931919 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.711C>T (p.Phe237=) | single nucleotide variant | not provided [RCV003814367] | Chr1:216365026 [GRCh38] Chr1:216538368 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5268T>G (p.Val1756=) | single nucleotide variant | not provided [RCV003668135] | Chr1:216083486 [GRCh38] Chr1:216256828 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5556T>C (p.His1852=) | single nucleotide variant | not provided [RCV003702069] | Chr1:216078105 [GRCh38] Chr1:216251447 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7120+13del | deletion | not provided [RCV003725429] | Chr1:215965304 [GRCh38] Chr1:216138646 [GRCh37] Chr1:1q41 |
benign |
NM_206933.4(USH2A):c.7842C>A (p.Ser2614=) | single nucleotide variant | not provided [RCV003851270] | Chr1:215888807 [GRCh38] Chr1:216062149 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10731C>T (p.Thr3577=) | single nucleotide variant | not provided [RCV003549879] | Chr1:215782051 [GRCh38] Chr1:215955393 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4885+15dup | duplication | not provided [RCV003697377] | Chr1:216088997..216088998 [GRCh38] Chr1:216262339..216262340 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1251G>A (p.Arg417=) | single nucleotide variant | not provided [RCV003668073] | Chr1:216324245 [GRCh38] Chr1:216497587 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8934T>C (p.Asp2978=) | single nucleotide variant | not provided [RCV003699411] | Chr1:215845945 [GRCh38] Chr1:216019287 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4577G>T (p.Gly1526Val) | single nucleotide variant | not provided [RCV003667201] | Chr1:216175302 [GRCh38] Chr1:216348644 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.9300A>G (p.Gly3100=) | single nucleotide variant | not provided [RCV003837585] | Chr1:215838062 [GRCh38] Chr1:216011404 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5858-18T>C | single nucleotide variant | not provided [RCV003725125] | Chr1:216070310 [GRCh38] Chr1:216243652 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8559-14G>A | single nucleotide variant | not provided [RCV003849365] | Chr1:215877894 [GRCh38] Chr1:216051236 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7203G>A (p.Gly2401=) | single nucleotide variant | not provided [RCV003659423] | Chr1:215934713 [GRCh38] Chr1:216108055 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8558+18T>C | single nucleotide variant | not provided [RCV003724356] | Chr1:215878746 [GRCh38] Chr1:216052088 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9259-16A>G | single nucleotide variant | not provided [RCV003671945] | Chr1:215838119 [GRCh38] Chr1:216011461 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13500C>T (p.Thr4500=) | single nucleotide variant | not provided [RCV003659020] | Chr1:215674411 [GRCh38] Chr1:215847753 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14199C>T (p.Ala4733=) | single nucleotide variant | not provided [RCV003559784] | Chr1:215650736 [GRCh38] Chr1:215824078 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.123G>A (p.Glu41=) | single nucleotide variant | not provided [RCV003667936] | Chr1:216422214 [GRCh38] Chr1:216595556 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4189T>A (p.Tyr1397Asn) | single nucleotide variant | not provided [RCV003672222] | Chr1:216196615 [GRCh38] Chr1:216369957 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.10702A>T (p.Lys3568Ter) | single nucleotide variant | not provided [RCV003725281] | Chr1:215782080 [GRCh38] Chr1:215955422 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8224-14A>C | single nucleotide variant | not provided [RCV003813885] | Chr1:215879112 [GRCh38] Chr1:216052454 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8700T>C (p.Tyr2900=) | single nucleotide variant | not provided [RCV003700420] | Chr1:215867152 [GRCh38] Chr1:216040494 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5967G>A (p.Leu1989=) | single nucleotide variant | not provided [RCV003723661] | Chr1:216070183 [GRCh38] Chr1:216243525 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6525C>T (p.Arg2175=) | single nucleotide variant | not provided [RCV003671531] | Chr1:215999019 [GRCh38] Chr1:216172361 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11390-16C>T | single nucleotide variant | not provided [RCV003667532] | Chr1:215743351 [GRCh38] Chr1:215916693 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13263T>C (p.Leu4421=) | single nucleotide variant | not provided [RCV003723903] | Chr1:215674648 [GRCh38] Chr1:215847990 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5505A>C (p.Ser1835=) | single nucleotide variant | not provided [RCV003580971] | Chr1:216078156 [GRCh38] Chr1:216251498 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2940A>G (p.Gln980=) | single nucleotide variant | not provided [RCV003667665] | Chr1:216232006 [GRCh38] Chr1:216405348 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9959-19del | deletion | not provided [RCV003666844] | Chr1:215790301 [GRCh38] Chr1:215963643 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4875G>C (p.Gly1625=) | single nucleotide variant | not provided [RCV003668218] | Chr1:216089023 [GRCh38] Chr1:216262365 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12246A>G (p.Ala4082=) | single nucleotide variant | not provided [RCV003701710] | Chr1:215680197 [GRCh38] Chr1:215853539 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11133C>G (p.Leu3711=) | single nucleotide variant | not provided [RCV003580492] | Chr1:215759758 [GRCh38] Chr1:215933100 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12409A>C (p.Arg4137=) | single nucleotide variant | not provided [RCV003697688] | Chr1:215675502 [GRCh38] Chr1:215848844 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3811+15C>G | single nucleotide variant | not provided [RCV003723839] | Chr1:216199612 [GRCh38] Chr1:216372954 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15096C>T (p.Ser5032=) | single nucleotide variant | not provided [RCV003668311] | Chr1:215634660 [GRCh38] Chr1:215808002 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11237_11242del (p.Thr3746_Tyr3747del) | deletion | not provided [RCV003696854] | Chr1:215758742..215758747 [GRCh38] Chr1:215932084..215932089 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14792-1G>A | single nucleotide variant | not provided [RCV003665453] | Chr1:215640735 [GRCh38] Chr1:215814077 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.14668C>T (p.Leu4890=) | single nucleotide variant | not provided [RCV003814441] | Chr1:215647645 [GRCh38] Chr1:215820987 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7275_7276delinsAG (p.Ile2426Val) | indel | not provided [RCV003672420] | Chr1:215934640..215934641 [GRCh38] Chr1:216107982..216107983 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2727T>C (p.Pro909=) | single nucleotide variant | not provided [RCV003560498] | Chr1:216246667 [GRCh38] Chr1:216420009 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7452-11T>C | single nucleotide variant | not provided [RCV003810700] | Chr1:215900228 [GRCh38] Chr1:216073570 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5508A>C (p.Pro1836=) | single nucleotide variant | not provided [RCV003664493] | Chr1:216078153 [GRCh38] Chr1:216251495 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.258G>A (p.Gln86=) | single nucleotide variant | not provided [RCV003560523] | Chr1:216422079 [GRCh38] Chr1:216595421 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6957+13A>T | single nucleotide variant | not provided [RCV003666315] | Chr1:215970612 [GRCh38] Chr1:216143954 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7451+18T>C | single nucleotide variant | not provided [RCV003671244] | Chr1:215900737 [GRCh38] Chr1:216074079 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10995G>A (p.Gly3665=) | single nucleotide variant | not provided [RCV003671330] | Chr1:215766733 [GRCh38] Chr1:215940075 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10934_10935dup (p.Thr3646fs) | duplication | not provided [RCV003580251] | Chr1:215779846..215779847 [GRCh38] Chr1:215953188..215953189 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9498G>A (p.Glu3166=) | single nucleotide variant | not provided [RCV003664575] | Chr1:215817069 [GRCh38] Chr1:215990411 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12067-14T>A | single nucleotide variant | not provided [RCV003672879] | Chr1:215680390 [GRCh38] Chr1:215853732 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6873T>C (p.Tyr2291=) | single nucleotide variant | not provided [RCV003560628] | Chr1:215970709 [GRCh38] Chr1:216144051 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10182+11G>C | single nucleotide variant | not provided [RCV003725430] | Chr1:215790048 [GRCh38] Chr1:215963390 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.267A>C (p.Pro89=) | single nucleotide variant | not provided [RCV003558118] | Chr1:216422070 [GRCh38] Chr1:216595412 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3812-6C>T | single nucleotide variant | not provided [RCV003666572] | Chr1:216198590 [GRCh38] Chr1:216371932 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12066+12T>C | single nucleotide variant | not provided [RCV003558190] | Chr1:215728018 [GRCh38] Chr1:215901360 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6918C>A (p.Val2306=) | single nucleotide variant | not provided [RCV003666664] | Chr1:215970664 [GRCh38] Chr1:216144006 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7713_7724del (p.Gly2572_Tyr2575del) | deletion | not provided [RCV003673097] | Chr1:215888925..215888936 [GRCh38] Chr1:216062267..216062278 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.11488C>T (p.Leu3830Phe) | single nucleotide variant | not provided [RCV003666598] | Chr1:215743237 [GRCh38] Chr1:215916579 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.3316+14T>C | single nucleotide variant | not provided [RCV003558193] | Chr1:216207259 [GRCh38] Chr1:216380601 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13769G>A (p.Gly4590Asp) | single nucleotide variant | not provided [RCV003552016] | Chr1:215674142 [GRCh38] Chr1:215847484 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7857A>C (p.Thr2619=) | single nucleotide variant | not provided [RCV003680900] | Chr1:215888792 [GRCh38] Chr1:216062134 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3567G>A (p.Leu1189=) | single nucleotide variant | not provided [RCV003710141] | Chr1:216199871 [GRCh38] Chr1:216373213 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8223+13C>T | single nucleotide variant | not provided [RCV003853418] | Chr1:215888413 [GRCh38] Chr1:216061755 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11389+16_11389+18del | microsatellite | not provided [RCV003856960] | Chr1:215758577..215758579 [GRCh38] Chr1:215931919..215931921 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15480C>T (p.Asn5160=) | single nucleotide variant | not provided [RCV003670818] | Chr1:215628853 [GRCh38] Chr1:215802195 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6325+12A>G | single nucleotide variant | not provided [RCV003823786] | Chr1:216046419 [GRCh38] Chr1:216219761 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9571-4T>C | single nucleotide variant | not provided [RCV003707300] | Chr1:215813908 [GRCh38] Chr1:215987250 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4615_4616insAA (p.Thr1539fs) | insertion | not provided [RCV003567431] | Chr1:216175263..216175264 [GRCh38] Chr1:216348605..216348606 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.2790G>T (p.Arg930Ser) | single nucleotide variant | not provided [RCV003862554] | Chr1:216246604 [GRCh38] Chr1:216419946 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.3812-14_3812-11del | deletion | not provided [RCV003732354] | Chr1:216198595..216198598 [GRCh38] Chr1:216371937..216371940 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6658-11T>A | single nucleotide variant | not provided [RCV003861843] | Chr1:215993178 [GRCh38] Chr1:216166520 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5658C>T (p.Val1886=) | single nucleotide variant | not provided [RCV003670689] | Chr1:216073215 [GRCh38] Chr1:216246557 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2168-12T>C | single nucleotide variant | not provided [RCV003731114] | Chr1:216247238 [GRCh38] Chr1:216420580 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6658-16T>G | single nucleotide variant | not provided [RCV003678619] | Chr1:215993183 [GRCh38] Chr1:216166525 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1841-19T>A | single nucleotide variant | not provided [RCV003728513] | Chr1:216289429 [GRCh38] Chr1:216462771 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2072G>C (p.Cys691Ser) | single nucleotide variant | not provided [RCV003679965] | Chr1:216250998 [GRCh38] Chr1:216424340 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.4988-12A>T | single nucleotide variant | not provided [RCV003862722] | Chr1:216084889 [GRCh38] Chr1:216258231 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9570+19A>G | single nucleotide variant | not provided [RCV003732554] | Chr1:215816978 [GRCh38] Chr1:215990320 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12066+19G>C | single nucleotide variant | not provided [RCV003542094] | Chr1:215728011 [GRCh38] Chr1:215901353 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15150G>A (p.Leu5050=) | single nucleotide variant | not provided [RCV003564274] | Chr1:215634606 [GRCh38] Chr1:215807948 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11548+17C>A | single nucleotide variant | not provided [RCV003680999] | Chr1:215743160 [GRCh38] Chr1:215916502 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6957+8T>C | single nucleotide variant | not provided [RCV003864777] | Chr1:215970617 [GRCh38] Chr1:216143959 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14565del (p.Asn4856fs) | deletion | not provided [RCV003734563] | Chr1:215648545 [GRCh38] Chr1:215821887 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1822T>C (p.Cys608Arg) | single nucleotide variant | not provided [RCV003734564] | Chr1:216292193 [GRCh38] Chr1:216465535 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.12509G>A (p.Ser4170Asn) | single nucleotide variant | not provided [RCV003683179] | Chr1:215675402 [GRCh38] Chr1:215848744 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12843G>A (p.Leu4281=) | single nucleotide variant | not provided [RCV003551895] | Chr1:215675068 [GRCh38] Chr1:215848410 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.485+18T>C | single nucleotide variant | not provided [RCV003550588] | Chr1:216421834 [GRCh38] Chr1:216595176 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6049+18A>G | single nucleotide variant | not provided [RCV003679964] | Chr1:216070083 [GRCh38] Chr1:216243425 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5610G>A (p.Arg1870=) | single nucleotide variant | not provided [RCV003730770] | Chr1:216073263 [GRCh38] Chr1:216246605 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12081A>C (p.Gln4027His) | single nucleotide variant | not provided [RCV003567707] | Chr1:215680362 [GRCh38] Chr1:215853704 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4628-19A>G | single nucleotide variant | not provided [RCV003732507] | Chr1:216097232 [GRCh38] Chr1:216270574 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9959-4G>T | single nucleotide variant | not provided [RCV003732540] | Chr1:215790286 [GRCh38] Chr1:215963628 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8649T>C (p.Thr2883=) | single nucleotide variant | not provided [RCV003862114] | Chr1:215877790 [GRCh38] Chr1:216051132 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11390-16C>G | single nucleotide variant | not provided [RCV003840782] | Chr1:215743351 [GRCh38] Chr1:215916693 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.849-9C>A | single nucleotide variant | not provided [RCV003552213] | Chr1:216325608 [GRCh38] Chr1:216498950 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1841-15C>T | single nucleotide variant | not provided [RCV003708339] | Chr1:216289425 [GRCh38] Chr1:216462767 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14791+20A>G | single nucleotide variant | not provided [RCV003677469] | Chr1:215647502 [GRCh38] Chr1:215820844 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2532_2535del (p.Pro846fs) | microsatellite | not provided [RCV003564507] | Chr1:216246859..216246862 [GRCh38] Chr1:216420201..216420204 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7716C>T (p.Gly2572=) | single nucleotide variant | not provided [RCV003678303] | Chr1:215888933 [GRCh38] Chr1:216062275 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.448T>C (p.Leu150=) | single nucleotide variant | not provided [RCV003553234] | Chr1:216421889 [GRCh38] Chr1:216595231 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5001del (p.Gly1668fs) | deletion | not provided [RCV003553310] | Chr1:216084864 [GRCh38] Chr1:216258206 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8976G>A (p.Glu2992=) | single nucleotide variant | not provided [RCV003681105] | Chr1:215845903 [GRCh38] Chr1:216019245 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10776C>T (p.Ser3592=) | single nucleotide variant | not provided [RCV003845862] | Chr1:215780006 [GRCh38] Chr1:215953348 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8710G>T (p.Val2904Leu) | single nucleotide variant | not provided [RCV003562545] | Chr1:215867142 [GRCh38] Chr1:216040484 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2388C>T (p.Asp796=) | single nucleotide variant | not provided [RCV003706704] | Chr1:216247006 [GRCh38] Chr1:216420348 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1841-20del | deletion | not provided [RCV003676324] | Chr1:216289430 [GRCh38] Chr1:216462772 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12294+15G>C | single nucleotide variant | not provided [RCV003821303] | Chr1:215680134 [GRCh38] Chr1:215853476 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14344-17C>T | single nucleotide variant | not provided [RCV003704882] | Chr1:215648783 [GRCh38] Chr1:215822125 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5168-4A>G | single nucleotide variant | not provided [RCV003553429] | Chr1:216083590 [GRCh38] Chr1:216256932 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14407_14431del (p.Ile4803fs) | deletion | not provided [RCV003552705] | Chr1:215648679..215648703 [GRCh38] Chr1:215822021..215822045 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.11231+9A>G | single nucleotide variant | not provided [RCV003708884] | Chr1:215759651 [GRCh38] Chr1:215932993 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14682C>T (p.Ala4894=) | single nucleotide variant | not provided [RCV003552023] | Chr1:215647631 [GRCh38] Chr1:215820973 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12253C>T (p.Leu4085=) | single nucleotide variant | not provided [RCV003552024] | Chr1:215680190 [GRCh38] Chr1:215853532 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10056C>T (p.Asp3352=) | single nucleotide variant | not provided [RCV003845188] | Chr1:215790185 [GRCh38] Chr1:215963527 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13311C>T (p.Ala4437=) | single nucleotide variant | not provided [RCV003563671] | Chr1:215674600 [GRCh38] Chr1:215847942 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8670G>A (p.Lys2890=) | single nucleotide variant | not provided [RCV003563739] | Chr1:215877769 [GRCh38] Chr1:216051111 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14199C>G (p.Ala4733=) | single nucleotide variant | not provided [RCV003858502] | Chr1:215650736 [GRCh38] Chr1:215824078 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10388-16T>C | single nucleotide variant | not provided [RCV003565122] | Chr1:215782951 [GRCh38] Chr1:215956293 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.848+11G>A | single nucleotide variant | not provided [RCV003550897] | Chr1:216327580 [GRCh38] Chr1:216500922 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13010C>A (p.Thr4337Lys) | single nucleotide variant | not provided [RCV003856971] | Chr1:215674901 [GRCh38] Chr1:215848243 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1419C>G (p.Thr473=) | single nucleotide variant | not provided [RCV003542642] | Chr1:216323605 [GRCh38] Chr1:216496947 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.570A>C (p.Thr190=) | single nucleotide variant | not provided [RCV003554463] | Chr1:216418595 [GRCh38] Chr1:216591937 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6163+10T>C | single nucleotide variant | not provided [RCV003864188] | Chr1:216048524 [GRCh38] Chr1:216221866 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.924C>T (p.His308=) | single nucleotide variant | not provided [RCV003862525] | Chr1:216325524 [GRCh38] Chr1:216498866 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6706del (p.Thr2236fs) | deletion | not provided [RCV003562707] | Chr1:215993119 [GRCh38] Chr1:216166461 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4920T>A (p.Ile1640=) | single nucleotide variant | not provided [RCV003562717] | Chr1:216086786 [GRCh38] Chr1:216260128 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4398A>C (p.Ala1466=) | single nucleotide variant | not provided [RCV003565269] | Chr1:216175481 [GRCh38] Chr1:216348823 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6049+12C>T | single nucleotide variant | not provided [RCV003845802] | Chr1:216070089 [GRCh38] Chr1:216243431 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1200A>G (p.Gln400=) | single nucleotide variant | not provided [RCV003563407] | Chr1:216324296 [GRCh38] Chr1:216497638 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1551-4G>A | single nucleotide variant | not provided [RCV003563546] | Chr1:216321980 [GRCh38] Chr1:216495322 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9056-9T>G | single nucleotide variant | not provided [RCV003706302] | Chr1:215844505 [GRCh38] Chr1:216017847 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4041T>C (p.Ser1347=) | single nucleotide variant | not provided [RCV003554468] | Chr1:216198355 [GRCh38] Chr1:216371697 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9918T>C (p.Cys3306=) | single nucleotide variant | not provided [RCV003864174] | Chr1:215798947 [GRCh38] Chr1:215972289 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12294+17A>G | single nucleotide variant | not provided [RCV003735670] | Chr1:215680132 [GRCh38] Chr1:215853474 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3317-16_3317-14del | deletion | not provided [RCV003550823] | Chr1:216200135..216200137 [GRCh38] Chr1:216373477..216373479 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7120+19C>A | single nucleotide variant | not provided [RCV003729645] | Chr1:215965298 [GRCh38] Chr1:216138640 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2915G>T (p.Cys972Phe) | single nucleotide variant | not provided [RCV003706451] | Chr1:216232031 [GRCh38] Chr1:216405373 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.7595-13_7595-9del | deletion | not provided [RCV003567381] | Chr1:215889063..215889067 [GRCh38] Chr1:216062405..216062409 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14343+18A>C | single nucleotide variant | not provided [RCV003841478] | Chr1:215650574 [GRCh38] Chr1:215823916 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.135T>C (p.Ala45=) | single nucleotide variant | not provided [RCV003564363] | Chr1:216422202 [GRCh38] Chr1:216595544 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14437T>G (p.Cys4813Gly) | single nucleotide variant | not provided [RCV003678052] | Chr1:215648673 [GRCh38] Chr1:215822015 [GRCh37] Chr1:1q41 |
uncertain significance |
NC_000001.11:g.216083590_216083591insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCAGGAACCCTTT | insertion | not provided [RCV003565821] | Chr1:216083577..216083578 [GRCh38] Chr1:216256919..216256920 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.2810-19T>C | single nucleotide variant | not provided [RCV003860691] | Chr1:216232155 [GRCh38] Chr1:216405497 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5962A>G (p.Ile1988Val) | single nucleotide variant | not provided [RCV003731393] | Chr1:216070188 [GRCh38] Chr1:216243530 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14133+13T>C | single nucleotide variant | not provided [RCV003708027] | Chr1:215670959 [GRCh38] Chr1:215844301 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4758+7G>A | single nucleotide variant | not provided [RCV003681337] | Chr1:216097076 [GRCh38] Chr1:216270418 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10586-20del | deletion | not provided [RCV003567777] | Chr1:215782216 [GRCh38] Chr1:215955558 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4467A>T (p.Pro1489=) | single nucleotide variant | not provided [RCV003677816] | Chr1:216175412 [GRCh38] Chr1:216348754 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14792-4A>C | single nucleotide variant | not provided [RCV003565063] | Chr1:215640738 [GRCh38] Chr1:215814080 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11244G>A (p.Lys3748=) | single nucleotide variant | not provided [RCV003731497] | Chr1:215758740 [GRCh38] Chr1:215932082 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2167+20T>G | single nucleotide variant | not provided [RCV003861671] | Chr1:216250883 [GRCh38] Chr1:216424225 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14235G>T (p.Val4745=) | single nucleotide variant | not provided [RCV003861674] | Chr1:215650700 [GRCh38] Chr1:215824042 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.652-18G>A | single nucleotide variant | not provided [RCV003681496] | Chr1:216365103 [GRCh38] Chr1:216538445 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1644+19A>G | single nucleotide variant | not provided [RCV003865396] | Chr1:216321864 [GRCh38] Chr1:216495206 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15052+14A>G | single nucleotide variant | not provided [RCV003555584] | Chr1:215639141 [GRCh38] Chr1:215812483 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8136T>C (p.Ser2712=) | single nucleotide variant | not provided [RCV003865370] | Chr1:215888513 [GRCh38] Chr1:216061855 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11094G>A (p.Val3698=) | single nucleotide variant | not provided [RCV003683112] | Chr1:215759797 [GRCh38] Chr1:215933139 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8223+16T>A | single nucleotide variant | not provided [RCV003866376] | Chr1:215888410 [GRCh38] Chr1:216061752 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11358T>G (p.Pro3786=) | single nucleotide variant | not provided [RCV003857651] | Chr1:215758626 [GRCh38] Chr1:215931968 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6485+15_6485+17del | microsatellite | not provided [RCV003676614] | Chr1:216000386..216000388 [GRCh38] Chr1:216173728..216173730 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13137del (p.Thr4380fs) | deletion | not provided [RCV003566011] | Chr1:215674774 [GRCh38] Chr1:215848116 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.15297+10T>C | single nucleotide variant | not provided [RCV003563788] | Chr1:215634449 [GRCh38] Chr1:215807791 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7617G>T (p.Pro2539=) | single nucleotide variant | not provided [RCV003677374] | Chr1:215889032 [GRCh38] Chr1:216062374 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10585+13C>A | single nucleotide variant | not provided [RCV003863354] | Chr1:215782725 [GRCh38] Chr1:215956067 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7451+20C>T | single nucleotide variant | not provided [RCV003732800] | Chr1:215900735 [GRCh38] Chr1:216074077 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1903_1919del (p.Ile635fs) | deletion | not provided [RCV003678310] | Chr1:216289332..216289348 [GRCh38] Chr1:216462674..216462690 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.10387+17T>A | single nucleotide variant | not provided [RCV003677526] | Chr1:215786653 [GRCh38] Chr1:215959995 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9369A>C (p.Ser3123=) | single nucleotide variant | not provided [RCV003708458] | Chr1:215837993 [GRCh38] Chr1:216011335 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.898T>C (p.Ser300Pro) | single nucleotide variant | not provided [RCV003731870] | Chr1:216325550 [GRCh38] Chr1:216498892 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5299-12T>C | single nucleotide variant | not provided [RCV003568470] | Chr1:216078374 [GRCh38] Chr1:216251716 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6992G>A (p.Gly2331Glu) | single nucleotide variant | not provided [RCV003864513] | Chr1:215965445 [GRCh38] Chr1:216138787 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.1776A>T (p.Pro592=) | single nucleotide variant | not provided [RCV003711691] | Chr1:216292239 [GRCh38] Chr1:216465581 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9666T>C (p.Cys3222=) | single nucleotide variant | not provided [RCV003705984] | Chr1:215813809 [GRCh38] Chr1:215987151 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3811+10C>G | single nucleotide variant | not provided [RCV003670724] | Chr1:216199617 [GRCh38] Chr1:216372959 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13248G>A (p.Gln4416=) | single nucleotide variant | not provided [RCV003856896] | Chr1:215674663 [GRCh38] Chr1:215848005 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5365C>A (p.Leu1789Ile) | single nucleotide variant | not provided [RCV003822202] | Chr1:216078296 [GRCh38] Chr1:216251638 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13324G>C (p.Ala4442Pro) | single nucleotide variant | not provided [RCV003858726] | Chr1:215674587 [GRCh38] Chr1:215847929 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5168-8C>A | single nucleotide variant | not provided [RCV003865959] | Chr1:216083594 [GRCh38] Chr1:216256936 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7773C>T (p.His2591=) | single nucleotide variant | not provided [RCV003819102] | Chr1:215888876 [GRCh38] Chr1:216062218 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7818del (p.Gly2607fs) | deletion | not provided [RCV003675494] | Chr1:215888831 [GRCh38] Chr1:216062173 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7839G>A (p.Glu2613=) | single nucleotide variant | not provided [RCV003563153] | Chr1:215888810 [GRCh38] Chr1:216062152 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4650A>C (p.Thr1550=) | single nucleotide variant | not provided [RCV003676748] | Chr1:216097191 [GRCh38] Chr1:216270533 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.805A>T (p.Arg269Ter) | single nucleotide variant | not provided [RCV003566255] | Chr1:216327634 [GRCh38] Chr1:216500976 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.5298+19T>C | single nucleotide variant | not provided [RCV003566280] | Chr1:216083437 [GRCh38] Chr1:216256779 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13668G>A (p.Val4556=) | single nucleotide variant | not provided [RCV003844846] | Chr1:215674243 [GRCh38] Chr1:215847585 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.288C>G (p.Thr96=) | single nucleotide variant | not provided [RCV003562792] | Chr1:216422049 [GRCh38] Chr1:216595391 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8681+19T>C | single nucleotide variant | not provided [RCV003710041] | Chr1:215877739 [GRCh38] Chr1:216051081 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7300+7C>G | single nucleotide variant | not provided [RCV003711854] | Chr1:215934609 [GRCh38] Chr1:216107951 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10182+6del | deletion | not provided [RCV003555779] | Chr1:215790053 [GRCh38] Chr1:215963395 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2099_2120del (p.Gly700fs) | deletion | not provided [RCV003683008] | Chr1:216250950..216250971 [GRCh38] Chr1:216424292..216424313 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.10387+1G>A | single nucleotide variant | not provided [RCV003683014] | Chr1:215786669 [GRCh38] Chr1:215960011 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.5456T>C (p.Leu1819Pro) | single nucleotide variant | not provided [RCV003707873] | Chr1:216078205 [GRCh38] Chr1:216251547 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12774A>C (p.Thr4258=) | single nucleotide variant | not provided [RCV003727586] | Chr1:215675137 [GRCh38] Chr1:215848479 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14583-9del | deletion | not provided [RCV003676370] | Chr1:215647739 [GRCh38] Chr1:215821081 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13092T>C (p.Leu4364=) | single nucleotide variant | not provided [RCV003676388] | Chr1:215674819 [GRCh38] Chr1:215848161 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9571-12T>C | single nucleotide variant | not provided [RCV003680853] | Chr1:215813916 [GRCh38] Chr1:215987258 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6806-3C>A | single nucleotide variant | not provided [RCV003711014] | Chr1:215970779 [GRCh38] Chr1:216144121 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1786del (p.Glu596fs) | deletion | not provided [RCV003680781] | Chr1:216292229 [GRCh38] Chr1:216465571 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1449G>T (p.Thr483=) | single nucleotide variant | not provided [RCV003682647] | Chr1:216323575 [GRCh38] Chr1:216496917 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6712_6722del (p.Glu2238fs) | deletion | not provided [RCV003704845] | Chr1:215993103..215993113 [GRCh38] Chr1:216166445..216166455 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9259-9T>C | single nucleotide variant | not provided [RCV003822255] | Chr1:215838112 [GRCh38] Chr1:216011454 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14792-19T>C | single nucleotide variant | not provided [RCV003729357] | Chr1:215640753 [GRCh38] Chr1:215814095 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10741-20C>T | single nucleotide variant | not provided [RCV003822065] | Chr1:215780061 [GRCh38] Chr1:215953403 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4396+11T>A | single nucleotide variant | not provided [RCV003860935] | Chr1:216190212 [GRCh38] Chr1:216363554 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10515T>G (p.Pro3505=) | single nucleotide variant | not provided [RCV003730853] | Chr1:215782808 [GRCh38] Chr1:215956150 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3299dup (p.Asp1101fs) | duplication | not provided [RCV003862949] | Chr1:216207289..216207290 [GRCh38] Chr1:216380631..216380632 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.6326-13C>T | single nucleotide variant | not provided [RCV003567865] | Chr1:216000575 [GRCh38] Chr1:216173917 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7233A>G (p.Gln2411=) | single nucleotide variant | not provided [RCV003555424] | Chr1:215934683 [GRCh38] Chr1:216108025 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10183-18C>A | single nucleotide variant | not provided [RCV003682139] | Chr1:215786892 [GRCh38] Chr1:215960234 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15588A>G (p.Thr5196=) | single nucleotide variant | not provided [RCV003557090] | Chr1:215625802 [GRCh38] Chr1:215799144 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4851T>C (p.Ala1617=) | single nucleotide variant | not provided [RCV003685784] | Chr1:216089047 [GRCh38] Chr1:216262389 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10098G>A (p.Lys3366=) | single nucleotide variant | not provided [RCV003676865] | Chr1:215790143 [GRCh38] Chr1:215963485 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6349C>T (p.Gln2117Ter) | single nucleotide variant | not provided [RCV003566109] | Chr1:216000539 [GRCh38] Chr1:216173881 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4759-7C>T | single nucleotide variant | not provided [RCV003719018] | Chr1:216089146 [GRCh38] Chr1:216262488 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8963del (p.Lys2988fs) | deletion | not provided [RCV003685956] | Chr1:215845916 [GRCh38] Chr1:216019258 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1143+13G>A | single nucleotide variant | not provided [RCV003722109] | Chr1:216325292 [GRCh38] Chr1:216498634 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8031G>A (p.Arg2677=) | single nucleotide variant | not provided [RCV003704879] | Chr1:215888618 [GRCh38] Chr1:216061960 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2846_2849dup (p.Cys951fs) | microsatellite | not provided [RCV003680368] | Chr1:216232096..216232097 [GRCh38] Chr1:216405438..216405439 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.6805+15T>C | single nucleotide variant | not provided [RCV003720415] | Chr1:215993005 [GRCh38] Chr1:216166347 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8139T>C (p.Ala2713=) | single nucleotide variant | not provided [RCV003685409] | Chr1:215888510 [GRCh38] Chr1:216061852 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4988-20A>G | single nucleotide variant | not provided [RCV003729672] | Chr1:216084897 [GRCh38] Chr1:216258239 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12357C>T (p.Phe4119=) | single nucleotide variant | not provided [RCV003861159] | Chr1:215675554 [GRCh38] Chr1:215848896 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7595-5T>A | single nucleotide variant | not provided [RCV003566246] | Chr1:215889059 [GRCh38] Chr1:216062401 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8559-18G>C | single nucleotide variant | not provided [RCV003733061] | Chr1:215877898 [GRCh38] Chr1:216051240 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10377C>T (p.Tyr3459=) | single nucleotide variant | not provided [RCV003686032] | Chr1:215786680 [GRCh38] Chr1:215960022 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1328+17A>G | single nucleotide variant | not provided [RCV003722329] | Chr1:216324151 [GRCh38] Chr1:216497493 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1416_1441del (p.Asn472fs) | deletion | not provided [RCV003727072] | Chr1:216323583..216323608 [GRCh38] Chr1:216496925..216496950 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4758+13T>C | single nucleotide variant | not provided [RCV003819417] | Chr1:216097070 [GRCh38] Chr1:216270412 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5796A>T (p.Ile1932=) | single nucleotide variant | not provided [RCV003566503] | Chr1:216072950 [GRCh38] Chr1:216246292 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6806-19G>A | single nucleotide variant | not provided [RCV003551909] | Chr1:215970795 [GRCh38] Chr1:216144137 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2810-19_2810-18del | deletion | not provided [RCV003866868] | Chr1:216232154..216232155 [GRCh38] Chr1:216405496..216405497 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13365A>G (p.Thr4455=) | single nucleotide variant | not provided [RCV003557046] | Chr1:215674546 [GRCh38] Chr1:215847888 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.785-18A>G | single nucleotide variant | not provided [RCV003727090] | Chr1:216327672 [GRCh38] Chr1:216501014 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4902G>A (p.Leu1634=) | single nucleotide variant | not provided [RCV003563581] | Chr1:216086804 [GRCh38] Chr1:216260146 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1545T>C (p.Ser515=) | single nucleotide variant | not provided [RCV003564963] | Chr1:216323479 [GRCh38] Chr1:216496821 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9833del (p.Asn3278fs) | deletion | not provided [RCV003706568] | Chr1:215799032 [GRCh38] Chr1:215972374 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8913C>T (p.Asp2971=) | single nucleotide variant | not provided [RCV003551972] | Chr1:215845966 [GRCh38] Chr1:216019308 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8319C>A (p.Ser2773=) | single nucleotide variant | not provided [RCV003737559] | Chr1:215879003 [GRCh38] Chr1:216052345 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1986T>C (p.Cys662=) | single nucleotide variant | not provided [RCV003683906] | Chr1:216251084 [GRCh38] Chr1:216424426 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7300+16T>A | single nucleotide variant | not provided [RCV003722524] | Chr1:215934600 [GRCh38] Chr1:216107942 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9880T>A (p.Cys3294Ser) | single nucleotide variant | not provided [RCV003670808] | Chr1:215798985 [GRCh38] Chr1:215972327 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.11001T>C (p.Thr3667=) | single nucleotide variant | not provided [RCV003867155] | Chr1:215766727 [GRCh38] Chr1:215940069 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6163+15A>G | single nucleotide variant | not provided [RCV003563668] | Chr1:216048519 [GRCh38] Chr1:216221861 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14223C>G (p.Pro4741=) | single nucleotide variant | not provided [RCV003681097] | Chr1:215650712 [GRCh38] Chr1:215824054 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4560C>A (p.Ile1520=) | single nucleotide variant | not provided [RCV003712158] | Chr1:216175319 [GRCh38] Chr1:216348661 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7176G>A (p.Glu2392=) | single nucleotide variant | not provided [RCV003682899] | Chr1:215934740 [GRCh38] Chr1:216108082 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3495G>A (p.Val1165=) | single nucleotide variant | not provided [RCV003682989] | Chr1:216199943 [GRCh38] Chr1:216373285 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3201T>C (p.Ser1067=) | single nucleotide variant | not provided [RCV003705366] | Chr1:216207388 [GRCh38] Chr1:216380730 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5167+19C>T | single nucleotide variant | not provided [RCV003860095] | Chr1:216084679 [GRCh38] Chr1:216258021 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10439A>G (p.Asn3480Ser) | single nucleotide variant | not provided [RCV003677522] | Chr1:215782884 [GRCh38] Chr1:215956226 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.8307C>T (p.Thr2769=) | single nucleotide variant | not provided [RCV003681132] | Chr1:215879015 [GRCh38] Chr1:216052357 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9570+13T>C | single nucleotide variant | not provided [RCV003733844] | Chr1:215816984 [GRCh38] Chr1:215990326 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9501C>T (p.Leu3167=) | single nucleotide variant | not provided [RCV003737844] | Chr1:215817066 [GRCh38] Chr1:215990408 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8223+14T>A | single nucleotide variant | not provided [RCV003737884] | Chr1:215888412 [GRCh38] Chr1:216061754 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6288G>C (p.Leu2096=) | single nucleotide variant | not provided [RCV003868039] | Chr1:216046468 [GRCh38] Chr1:216219810 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11711+13G>A | single nucleotide variant | not provided [RCV003679251] | Chr1:215741362 [GRCh38] Chr1:215914704 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3426G>A (p.Lys1142=) | single nucleotide variant | not provided [RCV003684917] | Chr1:216200012 [GRCh38] Chr1:216373354 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6921A>G (p.Gln2307=) | single nucleotide variant | not provided [RCV003677688] | Chr1:215970661 [GRCh38] Chr1:216144003 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4957C>A (p.Arg1653=) | single nucleotide variant | not provided [RCV003552618] | Chr1:216086749 [GRCh38] Chr1:216260091 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7878G>T (p.Gly2626=) | single nucleotide variant | not provided [RCV003554614] | Chr1:215888771 [GRCh38] Chr1:216062113 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.99A>G (p.Ser33=) | single nucleotide variant | not provided [RCV003554676] | Chr1:216422238 [GRCh38] Chr1:216595580 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2994-17_2994-4del | deletion | not provided [RCV003554682] | Chr1:216217554..216217567 [GRCh38] Chr1:216390896..216390909 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13751C>T (p.Thr4584Ile) | single nucleotide variant | not provided [RCV003736118] | Chr1:215674160 [GRCh38] Chr1:215847502 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9570+12C>T | single nucleotide variant | not provided [RCV003736095] | Chr1:215816985 [GRCh38] Chr1:215990327 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11390-18_11390-17insCC | insertion | not provided [RCV003868211] | Chr1:215743352..215743353 [GRCh38] Chr1:215916694..215916695 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10575A>T (p.Ile3525=) | single nucleotide variant | not provided [RCV003720091] | Chr1:215782748 [GRCh38] Chr1:215956090 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7301-2A>C | single nucleotide variant | not provided [RCV003721477] | Chr1:215900907 [GRCh38] Chr1:216074249 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.10188C>A (p.Thr3396=) | single nucleotide variant | not provided [RCV003844043] | Chr1:215786869 [GRCh38] Chr1:215960211 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13389C>G (p.Thr4463=) | single nucleotide variant | not provided [RCV003567304] | Chr1:215674522 [GRCh38] Chr1:215847864 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10940-6T>C | single nucleotide variant | not provided [RCV003685125] | Chr1:215766794 [GRCh38] Chr1:215940136 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10641A>G (p.Thr3547=) | single nucleotide variant | not provided [RCV003685148] | Chr1:215782141 [GRCh38] Chr1:215955483 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6326-5C>T | single nucleotide variant | not provided [RCV003562789] | Chr1:216000567 [GRCh38] Chr1:216173909 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6207T>C (p.Ser2069=) | single nucleotide variant | not provided [RCV003704414] | Chr1:216046549 [GRCh38] Chr1:216219891 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6033T>C (p.Asn2011=) | single nucleotide variant | not provided [RCV003704384] | Chr1:216070117 [GRCh38] Chr1:216243459 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6326-15C>T | single nucleotide variant | not provided [RCV003676489] | Chr1:216000577 [GRCh38] Chr1:216173919 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10585+11A>T | single nucleotide variant | not provided [RCV003858833] | Chr1:215782727 [GRCh38] Chr1:215956069 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2965dup (p.Tyr989fs) | duplication | not provided [RCV003677826] | Chr1:216231980..216231981 [GRCh38] Chr1:216405322..216405323 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.5514T>C (p.Tyr1838=) | single nucleotide variant | not provided [RCV003846141] | Chr1:216078147 [GRCh38] Chr1:216251489 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2961C>T (p.Asp987=) | single nucleotide variant | not provided [RCV003710982] | Chr1:216231985 [GRCh38] Chr1:216405327 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9056-12C>T | single nucleotide variant | not provided [RCV003868601] | Chr1:215844508 [GRCh38] Chr1:216017850 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11389+9A>G | single nucleotide variant | not provided [RCV003721568] | Chr1:215758586 [GRCh38] Chr1:215931928 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4988-15T>C | single nucleotide variant | not provided [RCV003871864] | Chr1:216084892 [GRCh38] Chr1:216258234 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13025C>T (p.Ser4342Phe) | single nucleotide variant | not provided [RCV003676549] | Chr1:215674886 [GRCh38] Chr1:215848228 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4082-11C>T | single nucleotide variant | not provided [RCV003705879] | Chr1:216196733 [GRCh38] Chr1:216370075 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10691C>G (p.Ser3564Ter) | single nucleotide variant | not provided [RCV003565717] | Chr1:215782091 [GRCh38] Chr1:215955433 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3890_3891del (p.Phe1297fs) | deletion | not provided [RCV003554899] | Chr1:216198505..216198506 [GRCh38] Chr1:216371847..216371848 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.13019G>C (p.Gly4340Ala) | single nucleotide variant | not provided [RCV003683692] | Chr1:215674892 [GRCh38] Chr1:215848234 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.2592A>G (p.Ser864=) | single nucleotide variant | not provided [RCV003685291] | Chr1:216246802 [GRCh38] Chr1:216420144 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12066+14G>A | single nucleotide variant | not provided [RCV003704428] | Chr1:215728016 [GRCh38] Chr1:215901358 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12295-6C>T | single nucleotide variant | not provided [RCV003704495] | Chr1:215675622 [GRCh38] Chr1:215848964 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1840+1G>T | single nucleotide variant | not provided [RCV003564372] | Chr1:216292174 [GRCh38] Chr1:216465516 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.946C>T (p.Gln316Ter) | single nucleotide variant | not provided [RCV003711142] | Chr1:216325502 [GRCh38] Chr1:216498844 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.2498del (p.Asn833fs) | deletion | not provided [RCV003718904] | Chr1:216246896 [GRCh38] Chr1:216420238 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.14221C>T (p.Pro4741Ser) | single nucleotide variant | not provided [RCV003685510] | Chr1:215650714 [GRCh38] Chr1:215824056 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4946G>T (p.Gly1649Val) | single nucleotide variant | not provided [RCV003684786] | Chr1:216086760 [GRCh38] Chr1:216260102 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1979G>A (p.Gly660Glu) | single nucleotide variant | not provided [RCV003684939] | Chr1:216251091 [GRCh38] Chr1:216424433 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.11267G>A (p.Gly3756Asp) | single nucleotide variant | not provided [RCV003872209] | Chr1:215758717 [GRCh38] Chr1:215932059 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.11571G>A (p.Arg3857=) | single nucleotide variant | not provided [RCV003872117] | Chr1:215741515 [GRCh38] Chr1:215914857 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3395del (p.Gly1132fs) | deletion | not provided [RCV003819155] | Chr1:216200043 [GRCh38] Chr1:216373385 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.14058A>T (p.Pro4686=) | single nucleotide variant | not provided [RCV003676690] | Chr1:215671047 [GRCh38] Chr1:215844389 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2415G>T (p.Gly805=) | single nucleotide variant | not provided [RCV003822057] | Chr1:216246979 [GRCh38] Chr1:216420321 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7305A>G (p.Pro2435=) | single nucleotide variant | not provided [RCV003711182] | Chr1:215900901 [GRCh38] Chr1:216074243 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9231G>A (p.Leu3077=) | single nucleotide variant | not provided [RCV003711192] | Chr1:215844321 [GRCh38] Chr1:216017663 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5168-17T>C | single nucleotide variant | not provided [RCV003734703] | Chr1:216083603 [GRCh38] Chr1:216256945 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15444C>T (p.Leu5148=) | single nucleotide variant | not provided [RCV003683808] | Chr1:215628889 [GRCh38] Chr1:215802231 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14841G>T (p.Val4947=) | single nucleotide variant | not provided [RCV003718728] | Chr1:215640685 [GRCh38] Chr1:215814027 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10320T>A (p.Ile3440=) | single nucleotide variant | not provided [RCV003556953] | Chr1:215786737 [GRCh38] Chr1:215960079 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11022T>G (p.Gly3674=) | single nucleotide variant | not provided [RCV003556967] | Chr1:215766706 [GRCh38] Chr1:215940048 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11598C>T (p.Ala3866=) | single nucleotide variant | not provided [RCV003557016] | Chr1:215741488 [GRCh38] Chr1:215914830 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6049+13del | deletion | not provided [RCV003685462] | Chr1:216070088 [GRCh38] Chr1:216243430 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3600T>A (p.Gly1200=) | single nucleotide variant | not provided [RCV003737868] | Chr1:216199838 [GRCh38] Chr1:216373180 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6050-11T>C | single nucleotide variant | not provided [RCV003869088] | Chr1:216048658 [GRCh38] Chr1:216222000 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2809+9G>T | single nucleotide variant | not provided [RCV003869191] | Chr1:216246576 [GRCh38] Chr1:216419918 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.486-17T>G | single nucleotide variant | not provided [RCV003705917] | Chr1:216418696 [GRCh38] Chr1:216592038 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1751G>A (p.Cys584Tyr) | single nucleotide variant | not provided [RCV003681688] | Chr1:216292264 [GRCh38] Chr1:216465606 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.12294+14T>G | single nucleotide variant | not provided [RCV003684707] | Chr1:215680135 [GRCh38] Chr1:215853477 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6326-12C>T | single nucleotide variant | not provided [RCV003720975] | Chr1:216000574 [GRCh38] Chr1:216173916 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9571-12T>G | single nucleotide variant | not provided [RCV003722132] | Chr1:215813916 [GRCh38] Chr1:215987258 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10653C>T (p.Phe3551=) | single nucleotide variant | not provided [RCV003704476] | Chr1:215782129 [GRCh38] Chr1:215955471 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11637G>T (p.Gly3879=) | single nucleotide variant | not provided [RCV003678063] | Chr1:215741449 [GRCh38] Chr1:215914791 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1512C>T (p.His504=) | single nucleotide variant | not provided [RCV003681903] | Chr1:216323512 [GRCh38] Chr1:216496854 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10940-14C>T | single nucleotide variant | not provided [RCV003841499] | Chr1:215766802 [GRCh38] Chr1:215940144 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10182+3A>T | single nucleotide variant | not provided [RCV003709443] | Chr1:215790056 [GRCh38] Chr1:215963398 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10183-15T>C | single nucleotide variant | not provided [RCV003870902] | Chr1:215786889 [GRCh38] Chr1:215960231 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4886-17C>G | single nucleotide variant | not provided [RCV003722523] | Chr1:216086837 [GRCh38] Chr1:216260179 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11232-14_11232-11del | microsatellite | not provided [RCV003822149] | Chr1:215758763..215758766 [GRCh38] Chr1:215932105..215932108 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1144-16A>C | single nucleotide variant | not provided [RCV003860959] | Chr1:216324368 [GRCh38] Chr1:216497710 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.187C>A (p.Arg63=) | single nucleotide variant | not provided [RCV003567952] | Chr1:216422150 [GRCh38] Chr1:216595492 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4320T>A (p.Tyr1440Ter) | single nucleotide variant | not provided [RCV003680213] | Chr1:216190299 [GRCh38] Chr1:216363641 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7034_7035insTT (p.His2346fs) | insertion | not provided [RCV003555465] | Chr1:215965402..215965403 [GRCh38] Chr1:216138744..216138745 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.485+20T>A | single nucleotide variant | not provided [RCV003721276] | Chr1:216421832 [GRCh38] Chr1:216595174 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11028A>G (p.Thr3676=) | single nucleotide variant | not provided [RCV003722478] | Chr1:215766700 [GRCh38] Chr1:215940042 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8558+19G>A | single nucleotide variant | not provided [RCV003865289] | Chr1:215878745 [GRCh38] Chr1:216052087 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12078T>C (p.His4026=) | single nucleotide variant | not provided [RCV003869158] | Chr1:215680365 [GRCh38] Chr1:215853707 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7301-17T>C | single nucleotide variant | not provided [RCV003871253] | Chr1:215900922 [GRCh38] Chr1:216074264 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14343+11G>A | single nucleotide variant | not provided [RCV003818215] | Chr1:215650581 [GRCh38] Chr1:215823923 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11047+15T>A | single nucleotide variant | not provided [RCV003551727] | Chr1:215766666 [GRCh38] Chr1:215940008 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11864_11866dup (p.Trp3955_Ser3956insTrp) | duplication | not provided [RCV003680290] | Chr1:215728229..215728230 [GRCh38] Chr1:215901571..215901572 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.11390-12C>G | single nucleotide variant | not provided [RCV003680311] | Chr1:215743347 [GRCh38] Chr1:215916689 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9858T>G (p.Leu3286=) | single nucleotide variant | not provided [RCV003682242] | Chr1:215799007 [GRCh38] Chr1:215972349 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11548+14A>G | single nucleotide variant | not provided [RCV003737979] | Chr1:215743163 [GRCh38] Chr1:215916505 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11390-18C>T | single nucleotide variant | not provided [RCV003738002] | Chr1:215743353 [GRCh38] Chr1:215916695 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6049+20del | deletion | not provided [RCV003721466] | Chr1:216070081 [GRCh38] Chr1:216243423 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13194C>T (p.Ser4398=) | single nucleotide variant | not provided [RCV003722712] | Chr1:215674717 [GRCh38] Chr1:215848059 [GRCh37] Chr1:1q41 |
likely benign |
GRCh37/hg19 1q41(chr1:215576055-215927476)x3 | copy number gain | not specified [RCV003986817] | Chr1:215576055..215927476 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4110C>T (p.Val1370=) | single nucleotide variant | not provided [RCV003706395] | Chr1:216196694 [GRCh38] Chr1:216370036 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12066+17A>G | single nucleotide variant | not provided [RCV003680397] | Chr1:215728013 [GRCh38] Chr1:215901355 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15391C>T (p.Gln5131Ter) | single nucleotide variant | not provided [RCV003568359] | Chr1:215628942 [GRCh38] Chr1:215802284 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1551-2A>G | single nucleotide variant | not provided [RCV003682533] | Chr1:216321978 [GRCh38] Chr1:216495320 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.271A>T (p.Arg91Ter) | single nucleotide variant | not provided [RCV003682548] | Chr1:216422066 [GRCh38] Chr1:216595408 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.13866G>A (p.Trp4622Ter) | single nucleotide variant | not provided [RCV003557519] | Chr1:215671239 [GRCh38] Chr1:215844581 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4137T>C (p.Asn1379=) | single nucleotide variant | not provided [RCV003685955] | Chr1:216196667 [GRCh38] Chr1:216370009 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8959C>T (p.Leu2987=) | single nucleotide variant | not provided [RCV003685957] | Chr1:215845920 [GRCh38] Chr1:216019262 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5466T>C (p.His1822=) | single nucleotide variant | not provided [RCV003858226] | Chr1:216078195 [GRCh38] Chr1:216251537 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2307A>G (p.Lys769=) | single nucleotide variant | not provided [RCV003705062] | Chr1:216247087 [GRCh38] Chr1:216420429 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10466del (p.Ala3489fs) | deletion | not provided [RCV003706493] | Chr1:215782857 [GRCh38] Chr1:215956199 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7301-18A>C | single nucleotide variant | not provided [RCV003845065] | Chr1:215900923 [GRCh38] Chr1:216074265 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6363_6364del (p.Ala2122fs) | deletion | not provided [RCV003708086] | Chr1:216000524..216000525 [GRCh38] Chr1:216173866..216173867 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.5858-9C>T | single nucleotide variant | not provided [RCV003861454] | Chr1:216070301 [GRCh38] Chr1:216243643 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8945A>T (p.His2982Leu) | single nucleotide variant | not provided [RCV003737428] | Chr1:215845934 [GRCh38] Chr1:216019276 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6929C>G (p.Thr2310Arg) | single nucleotide variant | not provided [RCV003737446] | Chr1:215970653 [GRCh38] Chr1:216143995 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.486-17del | deletion | not provided [RCV003738533] | Chr1:216418696 [GRCh38] Chr1:216592038 [GRCh37] Chr1:1q41 |
benign |
NM_206933.4(USH2A):c.3317-4T>A | single nucleotide variant | not provided [RCV003721305] | Chr1:216200125 [GRCh38] Chr1:216373467 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12339G>A (p.Leu4113=) | single nucleotide variant | not provided [RCV003721256] | Chr1:215675572 [GRCh38] Chr1:215848914 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8559-19T>C | single nucleotide variant | not provided [RCV003562447] | Chr1:215877899 [GRCh38] Chr1:216051241 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7065T>C (p.Pro2355=) | single nucleotide variant | not provided [RCV003564975] | Chr1:215965372 [GRCh38] Chr1:216138714 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1650T>C (p.Asp550=) | single nucleotide variant | not provided [RCV003845176] | Chr1:216292365 [GRCh38] Chr1:216465707 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11427C>G (p.Val3809=) | single nucleotide variant | not provided [RCV003845183] | Chr1:215743298 [GRCh38] Chr1:215916640 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6951C>A (p.Gly2317=) | single nucleotide variant | not provided [RCV003554079] | Chr1:215970631 [GRCh38] Chr1:216143973 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15010G>T (p.Val5004Phe) | single nucleotide variant | not provided [RCV003723117] | Chr1:215639197 [GRCh38] Chr1:215812539 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13524del (p.Thr4508_Val4509insTer) | deletion | not provided [RCV003704154] | Chr1:215674387 [GRCh38] Chr1:215847729 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.13869A>G (p.Thr4623=) | single nucleotide variant | not provided [RCV003842148] | Chr1:215671236 [GRCh38] Chr1:215844578 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6330A>G (p.Leu2110=) | single nucleotide variant | not provided [RCV003550587] | Chr1:216000558 [GRCh38] Chr1:216173900 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9213G>T (p.Ser3071=) | single nucleotide variant | not provided [RCV003733496] | Chr1:215844339 [GRCh38] Chr1:216017681 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8610A>G (p.Pro2870=) | single nucleotide variant | not provided [RCV003733497] | Chr1:215877829 [GRCh38] Chr1:216051171 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14969C>G (p.Thr4990Ser) | single nucleotide variant | not provided [RCV003735569] | Chr1:215639238 [GRCh38] Chr1:215812580 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5573-16C>G | single nucleotide variant | not provided [RCV003737424] | Chr1:216073316 [GRCh38] Chr1:216246658 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5777-10T>C | single nucleotide variant | not provided [RCV003684341] | Chr1:216072979 [GRCh38] Chr1:216246321 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10388-8C>G | single nucleotide variant | not provided [RCV003681035] | Chr1:215782943 [GRCh38] Chr1:215956285 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12834C>T (p.Pro4278=) | single nucleotide variant | not provided [RCV003733639] | Chr1:215675077 [GRCh38] Chr1:215848419 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6958-16C>A | single nucleotide variant | not provided [RCV003737565] | Chr1:215965495 [GRCh38] Chr1:216138837 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7637C>A (p.Ser2546Ter) | single nucleotide variant | not provided [RCV003554515] | Chr1:215889012 [GRCh38] Chr1:216062354 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.10183-14G>A | single nucleotide variant | not provided [RCV003735808] | Chr1:215786888 [GRCh38] Chr1:215960230 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14343+13G>C | single nucleotide variant | not provided [RCV003735809] | Chr1:215650579 [GRCh38] Chr1:215823921 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6805+15_6805+16del | deletion | not provided [RCV003721726] | Chr1:215993004..215993005 [GRCh38] Chr1:216166346..216166347 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14442C>T (p.Cys4814=) | single nucleotide variant | not provided [RCV003866279] | Chr1:215648668 [GRCh38] Chr1:215822010 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6657+14C>T | single nucleotide variant | not provided [RCV003719574] | Chr1:215998873 [GRCh38] Chr1:216172215 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.27C>T (p.Gly9=) | single nucleotide variant | not provided [RCV003676341] | Chr1:216422310 [GRCh38] Chr1:216595652 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9353_9354del (p.Ile3118fs) | deletion | not provided [RCV003564071] | Chr1:215838008..215838009 [GRCh38] Chr1:216011350..216011351 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.11202C>T (p.Phe3734=) | single nucleotide variant | not provided [RCV003732100] | Chr1:215759689 [GRCh38] Chr1:215933031 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.707C>A (p.Pro236His) | single nucleotide variant | not provided [RCV003681517] | Chr1:216365030 [GRCh38] Chr1:216538372 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5124A>G (p.Gly1708=) | single nucleotide variant | not provided [RCV003683296] | Chr1:216084741 [GRCh38] Chr1:216258083 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.240C>G (p.Thr80=) | single nucleotide variant | not provided [RCV003683301] | Chr1:216422097 [GRCh38] Chr1:216595439 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13812-14C>T | single nucleotide variant | not provided [RCV003736092] | Chr1:215671307 [GRCh38] Chr1:215844649 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6486-16A>G | single nucleotide variant | not provided [RCV003719598] | Chr1:215999074 [GRCh38] Chr1:216172416 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7848T>G (p.Thr2616=) | single nucleotide variant | not provided [RCV003721825] | Chr1:215888801 [GRCh38] Chr1:216062143 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7452-17A>G | single nucleotide variant | not provided [RCV003567355] | Chr1:215900234 [GRCh38] Chr1:216073576 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4252-5T>C | single nucleotide variant | not provided [RCV003709000] | Chr1:216190372 [GRCh38] Chr1:216363714 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15017C>A (p.Thr5006Lys) | single nucleotide variant | not provided [RCV003554885] | Chr1:215639190 [GRCh38] Chr1:215812532 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.11416G>T (p.Glu3806Ter) | single nucleotide variant | not provided [RCV003554887] | Chr1:215743309 [GRCh38] Chr1:215916651 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.11194C>T (p.Gln3732Ter) | single nucleotide variant | not provided [RCV003554888] | Chr1:215759697 [GRCh38] Chr1:215933039 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.10709G>T (p.Cys3570Phe) | single nucleotide variant | not provided [RCV003554889] | Chr1:215782073 [GRCh38] Chr1:215955415 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.10102C>T (p.Gln3368Ter) | single nucleotide variant | not provided [RCV003554890] | Chr1:215790139 [GRCh38] Chr1:215963481 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9466del (p.Thr3156fs) | deletion | not provided [RCV003554891] | Chr1:215817101 [GRCh38] Chr1:215990443 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9319G>T (p.Glu3107Ter) | single nucleotide variant | not provided [RCV003554892] | Chr1:215838043 [GRCh38] Chr1:216011385 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8972_8973del (p.Thr2991fs) | microsatellite | not provided [RCV003554893] | Chr1:215845906..215845907 [GRCh38] Chr1:216019248..216019249 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter) | single nucleotide variant | not provided [RCV003554894] | Chr1:215900842 [GRCh38] Chr1:216074184 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7238A>G (p.Asn2413Ser) | single nucleotide variant | not provided [RCV003554895] | Chr1:215934678 [GRCh38] Chr1:216108020 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg) | single nucleotide variant | not provided [RCV003554896] | Chr1:215970657 [GRCh38] Chr1:216143999 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys) | single nucleotide variant | not provided [RCV003554897] | Chr1:216073097 [GRCh38] Chr1:216246439 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.3420_3423del (p.Tyr1141fs) | deletion | not provided [RCV003554900] | Chr1:216200015..216200018 [GRCh38] Chr1:216373357..216373360 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.2439del (p.Gln814fs) | deletion | not provided [RCV003554902] | Chr1:216246955 [GRCh38] Chr1:216420297 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1724G>C (p.Cys575Ser) | single nucleotide variant | not provided [RCV003554903] | Chr1:216292291 [GRCh38] Chr1:216465633 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.769G>A (p.Gly257Arg) | single nucleotide variant | not provided [RCV003554906] | Chr1:216364968 [GRCh38] Chr1:216538310 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.652-20A>G | single nucleotide variant | not provided [RCV003870477] | Chr1:216365105 [GRCh38] Chr1:216538447 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1328+18C>A | single nucleotide variant | not provided [RCV003564292] | Chr1:216324150 [GRCh38] Chr1:216497492 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15168C>T (p.Ala5056=) | single nucleotide variant | not provided [RCV003707139] | Chr1:215634588 [GRCh38] Chr1:215807930 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9570+18A>G | single nucleotide variant | not provided [RCV003821772] | Chr1:215816979 [GRCh38] Chr1:215990321 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14487C>G (p.Pro4829=) | single nucleotide variant | not provided [RCV003728901] | Chr1:215648623 [GRCh38] Chr1:215821965 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11548+3_11548+7dup | duplication | not provided [RCV003677866] | Chr1:215743169..215743170 [GRCh38] Chr1:215916511..215916512 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11390-12C>T | single nucleotide variant | not provided [RCV003680557] | Chr1:215743347 [GRCh38] Chr1:215916689 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8341A>G (p.Thr2781Ala) | single nucleotide variant | not provided [RCV003552431] | Chr1:215878981 [GRCh38] Chr1:216052323 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7300+17G>C | single nucleotide variant | not provided [RCV003857677] | Chr1:215934599 [GRCh38] Chr1:216107941 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11913T>G (p.Pro3971=) | single nucleotide variant | not provided [RCV003555087] | Chr1:215728183 [GRCh38] Chr1:215901525 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3000G>A (p.Gln1000=) | single nucleotide variant | not provided [RCV003542268] | Chr1:216217544 [GRCh38] Chr1:216390886 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.848+18T>C | single nucleotide variant | not provided [RCV003842721] | Chr1:216327573 [GRCh38] Chr1:216500915 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11548+15G>A | single nucleotide variant | not provided [RCV003735027] | Chr1:215743162 [GRCh38] Chr1:215916504 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5572+7T>G | single nucleotide variant | not provided [RCV003711835] | Chr1:216078082 [GRCh38] Chr1:216251424 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6788A>C (p.Glu2263Ala) | single nucleotide variant | not provided [RCV003551256] | Chr1:215993037 [GRCh38] Chr1:216166379 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.849-20C>T | single nucleotide variant | not provided [RCV003567622] | Chr1:216325619 [GRCh38] Chr1:216498961 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3045C>T (p.His1015=) | single nucleotide variant | not provided [RCV003709031] | Chr1:216217499 [GRCh38] Chr1:216390841 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1037A>G (p.Asn346Ser) | single nucleotide variant | not provided [RCV003733676] | Chr1:216325411 [GRCh38] Chr1:216498753 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.9740-15G>T | single nucleotide variant | not provided [RCV003734513] | Chr1:215799140 [GRCh38] Chr1:215972482 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1269A>G (p.Gly423=) | single nucleotide variant | not provided [RCV003865274] | Chr1:216324227 [GRCh38] Chr1:216497569 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3534C>T (p.Pro1178=) | single nucleotide variant | not provided [RCV003711683] | Chr1:216199904 [GRCh38] Chr1:216373246 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8232G>T (p.Trp2744Cys) | single nucleotide variant | not provided [RCV003567070] | Chr1:215879090 [GRCh38] Chr1:216052432 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.918C>A (p.Gly306=) | single nucleotide variant | not provided [RCV003679383] | Chr1:216325530 [GRCh38] Chr1:216498872 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.330A>T (p.Thr110=) | single nucleotide variant | not provided [RCV003680754] | Chr1:216422007 [GRCh38] Chr1:216595349 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8955C>T (p.Gly2985=) | single nucleotide variant | not provided [RCV003567163] | Chr1:215845924 [GRCh38] Chr1:216019266 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1644+14T>C | single nucleotide variant | not provided [RCV003542251] | Chr1:216321869 [GRCh38] Chr1:216495211 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10586-17T>C | single nucleotide variant | not provided [RCV003555504] | Chr1:215782213 [GRCh38] Chr1:215955555 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6195del (p.Lys2065fs) | deletion | not provided [RCV003682476] | Chr1:216046561 [GRCh38] Chr1:216219903 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.11232-18_11232-16del | microsatellite | not provided [RCV003555859] | Chr1:215758768..215758770 [GRCh38] Chr1:215932110..215932112 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3316+11G>C | single nucleotide variant | not provided [RCV003683571] | Chr1:216207262 [GRCh38] Chr1:216380604 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10939+19_10939+20insAC | insertion | not provided [RCV003866693] | Chr1:215779823..215779824 [GRCh38] Chr1:215953165..215953166 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7595-12T>C | single nucleotide variant | not provided [RCV003733389] | Chr1:215889066 [GRCh38] Chr1:216062408 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5286T>A (p.Pro1762=) | single nucleotide variant | not provided [RCV003708917] | Chr1:216083468 [GRCh38] Chr1:216256810 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9740-19T>C | single nucleotide variant | not provided [RCV003845985] | Chr1:215799144 [GRCh38] Chr1:215972486 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10939+10del | deletion | not provided [RCV003681133] | Chr1:215779833 [GRCh38] Chr1:215953175 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11390-11T>C | single nucleotide variant | not provided [RCV003542114] | Chr1:215743346 [GRCh38] Chr1:215916688 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12334G>A (p.Gly4112Ser) | single nucleotide variant | not provided [RCV003555777] | Chr1:215675577 [GRCh38] Chr1:215848919 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10714del (p.Val3572fs) | deletion | not provided [RCV003682744] | Chr1:215782068 [GRCh38] Chr1:215955410 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.486-10G>T | single nucleotide variant | not provided [RCV003682748] | Chr1:216418689 [GRCh38] Chr1:216592031 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14376C>T (p.Leu4792=) | single nucleotide variant | not provided [RCV003682650] | Chr1:215648734 [GRCh38] Chr1:215822076 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1479C>A (p.Tyr493Ter) | single nucleotide variant | not provided [RCV003552687] | Chr1:216323545 [GRCh38] Chr1:216496887 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9381A>G (p.Gln3127=) | single nucleotide variant | not provided [RCV003860402] | Chr1:215817186 [GRCh38] Chr1:215990528 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4396+16T>G | single nucleotide variant | not provided [RCV003860416] | Chr1:216190207 [GRCh38] Chr1:216363549 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.471G>A (p.Glu157=) | single nucleotide variant | not provided [RCV003710516] | Chr1:216421866 [GRCh38] Chr1:216595208 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.582G>A (p.Leu194=) | single nucleotide variant | not provided [RCV003681273] | Chr1:216418583 [GRCh38] Chr1:216591925 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6524_6525del (p.Arg2175fs) | deletion | not provided [RCV003542650] | Chr1:215999019..215999020 [GRCh38] Chr1:216172361..216172362 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.14520G>A (p.Leu4840=) | single nucleotide variant | not provided [RCV003856880] | Chr1:215648590 [GRCh38] Chr1:215821932 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10183-9T>A | single nucleotide variant | not provided [RCV003819467] | Chr1:215786883 [GRCh38] Chr1:215960225 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4082-10T>C | single nucleotide variant | not provided [RCV003858186] | Chr1:216196732 [GRCh38] Chr1:216370074 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2832T>C (p.Asn944=) | single nucleotide variant | not provided [RCV003675565] | Chr1:216232114 [GRCh38] Chr1:216405456 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1837A>G (p.Thr613Ala) | single nucleotide variant | not provided [RCV003735570] | Chr1:216292178 [GRCh38] Chr1:216465520 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.11390-15T>G | single nucleotide variant | not provided [RCV003564610] | Chr1:215743350 [GRCh38] Chr1:215916692 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4082-17_4082-12del | microsatellite | not provided [RCV003566179] | Chr1:216196734..216196739 [GRCh38] Chr1:216370076..216370081 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4758+14C>T | single nucleotide variant | not provided [RCV003707223] | Chr1:216097069 [GRCh38] Chr1:216270411 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2226T>C (p.Val742=) | single nucleotide variant | not provided [RCV003681208] | Chr1:216247168 [GRCh38] Chr1:216420510 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6806-16A>G | single nucleotide variant | not provided [RCV003840683] | Chr1:215970792 [GRCh38] Chr1:216144134 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5299-20T>C | single nucleotide variant | not provided [RCV003675787] | Chr1:216078382 [GRCh38] Chr1:216251724 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.1645-17G>T | single nucleotide variant | not provided [RCV003729490] | Chr1:216292387 [GRCh38] Chr1:216465729 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12618G>A (p.Gln4206=) | single nucleotide variant | not provided [RCV003843158] | Chr1:215675293 [GRCh38] Chr1:215848635 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14792-14C>G | single nucleotide variant | not provided [RCV003735668] | Chr1:215640748 [GRCh38] Chr1:215814090 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3812-15A>G | single nucleotide variant | not provided [RCV003735682] | Chr1:216198599 [GRCh38] Chr1:216371941 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.5994T>G (p.Arg1998=) | single nucleotide variant | not provided [RCV003709170] | Chr1:216070156 [GRCh38] Chr1:216243498 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12969T>G (p.Leu4323=) | single nucleotide variant | not provided [RCV003554532] | Chr1:215674942 [GRCh38] Chr1:215848284 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14487C>T (p.Pro4829=) | single nucleotide variant | not provided [RCV003703919] | Chr1:215648623 [GRCh38] Chr1:215821965 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7230A>G (p.Val2410=) | single nucleotide variant | not provided [RCV003674617] | Chr1:215934686 [GRCh38] Chr1:216108028 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6768C>G (p.Ser2256=) | single nucleotide variant | not provided [RCV003703939] | Chr1:215993057 [GRCh38] Chr1:216166399 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11389+20A>G | single nucleotide variant | not provided [RCV003674703] | Chr1:215758575 [GRCh38] Chr1:215931917 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4082-15_4082-10dup | duplication | not provided [RCV003563715] | Chr1:216196731..216196732 [GRCh38] Chr1:216370073..216370074 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4885+3A>G | single nucleotide variant | not provided [RCV003853691] | Chr1:216089010 [GRCh38] Chr1:216262352 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12395T>A (p.Leu4132Gln) | single nucleotide variant | not provided [RCV003866102] | Chr1:215675516 [GRCh38] Chr1:215848858 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.5168-18A>G | single nucleotide variant | not provided [RCV003730679] | Chr1:216083604 [GRCh38] Chr1:216256946 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11289C>A (p.Tyr3763Ter) | single nucleotide variant | not provided [RCV003678227] | Chr1:215758695 [GRCh38] Chr1:215932037 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.12012G>A (p.Glu4004=) | single nucleotide variant | not provided [RCV003680022] | Chr1:215728084 [GRCh38] Chr1:215901426 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14897del (p.Val4965_Leu4966insTer) | deletion | not provided [RCV003563532] | Chr1:215640629 [GRCh38] Chr1:215813971 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.13337del (p.Asn4446fs) | deletion | not provided [RCV003564885] | Chr1:215674574 [GRCh38] Chr1:215847916 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7594+15C>T | single nucleotide variant | not provided [RCV003729656] | Chr1:215900060 [GRCh38] Chr1:216073402 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7276A>C (p.Ile2426Leu) | single nucleotide variant | not provided [RCV003710745] | Chr1:215934640 [GRCh38] Chr1:216107982 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.3316+17G>A | single nucleotide variant | not provided [RCV003818515] | Chr1:216207256 [GRCh38] Chr1:216380598 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6120T>C (p.Cys2040=) | single nucleotide variant | not provided [RCV003563644] | Chr1:216048577 [GRCh38] Chr1:216221919 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7120+10T>C | single nucleotide variant | not provided [RCV003674780] | Chr1:215965307 [GRCh38] Chr1:216138649 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3317-18T>C | single nucleotide variant | not provided [RCV003676148] | Chr1:216200139 [GRCh38] Chr1:216373481 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11231+12G>T | single nucleotide variant | not provided [RCV003841951] | Chr1:215759648 [GRCh38] Chr1:215932990 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14445C>T (p.Ser4815=) | single nucleotide variant | not provided [RCV003550384] | Chr1:215648665 [GRCh38] Chr1:215822007 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.785-17C>T | single nucleotide variant | not provided [RCV003706490] | Chr1:216327671 [GRCh38] Chr1:216501013 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11047+18A>G | single nucleotide variant | not provided [RCV003729644] | Chr1:215766663 [GRCh38] Chr1:215940005 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2703G>A (p.Glu901=) | single nucleotide variant | not provided [RCV003708180] | Chr1:216246691 [GRCh38] Chr1:216420033 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11712-8C>A | single nucleotide variant | not provided [RCV003822036] | Chr1:215728392 [GRCh38] Chr1:215901734 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14792-20A>G | single nucleotide variant | not provided [RCV003562544] | Chr1:215640754 [GRCh38] Chr1:215814096 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2862T>C (p.His954=) | single nucleotide variant | not provided [RCV003728508] | Chr1:216232084 [GRCh38] Chr1:216405426 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.648G>A (p.Val216=) | single nucleotide variant | not provided [RCV003552079] | Chr1:216418517 [GRCh38] Chr1:216591859 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7602A>G (p.Gly2534=) | single nucleotide variant | not provided [RCV003566655] | Chr1:215889047 [GRCh38] Chr1:216062389 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4759-19del | deletion | not provided [RCV003566101] | Chr1:216089158 [GRCh38] Chr1:216262500 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8682-15A>C | single nucleotide variant | not provided [RCV003732816] | Chr1:215867185 [GRCh38] Chr1:216040527 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14346A>C (p.Leu4782=) | single nucleotide variant | not provided [RCV003553591] | Chr1:215648764 [GRCh38] Chr1:215822106 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9967del (p.Cys3323fs) | deletion | not provided [RCV003704199] | Chr1:215790274 [GRCh38] Chr1:215963616 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.13812-1G>T | single nucleotide variant | not provided [RCV003704195] | Chr1:215671294 [GRCh38] Chr1:215844636 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8659T>C (p.Tyr2887His) | single nucleotide variant | not provided [RCV003676214] | Chr1:215877780 [GRCh38] Chr1:216051122 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.9270C>T (p.Cys3090=) | single nucleotide variant | not provided [RCV003858430] | Chr1:215838092 [GRCh38] Chr1:216011434 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4758+12A>C | single nucleotide variant | not provided [RCV003859746] | Chr1:216097071 [GRCh38] Chr1:216270413 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8577T>G (p.Arg2859=) | single nucleotide variant | not provided [RCV003859866] | Chr1:215877862 [GRCh38] Chr1:216051204 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9414C>T (p.Gly3138=) | single nucleotide variant | not provided [RCV003706477] | Chr1:215817153 [GRCh38] Chr1:215990495 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6657+17C>T | single nucleotide variant | not provided [RCV003735903] | Chr1:215998870 [GRCh38] Chr1:216172212 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11549-18A>G | single nucleotide variant | not provided [RCV003822505] | Chr1:215741555 [GRCh38] Chr1:215914897 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14271C>T (p.Ala4757=) | single nucleotide variant | not provided [RCV003676210] | Chr1:215650664 [GRCh38] Chr1:215824006 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11548+19C>G | single nucleotide variant | not provided [RCV003704330] | Chr1:215743158 [GRCh38] Chr1:215916500 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9571-20A>G | single nucleotide variant | not provided [RCV003676321] | Chr1:215813924 [GRCh38] Chr1:215987266 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12067-2A>C | single nucleotide variant | not provided [RCV003706679] | Chr1:215680378 [GRCh38] Chr1:215853720 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.10065A>T (p.Pro3355=) | single nucleotide variant | not provided [RCV003860040] | Chr1:215790176 [GRCh38] Chr1:215963518 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8403G>A (p.Gly2801=) | single nucleotide variant | not provided [RCV003731178] | Chr1:215878919 [GRCh38] Chr1:216052261 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.11389+11_11389+14del | deletion | not provided [RCV003731281] | Chr1:215758581..215758584 [GRCh38] Chr1:215931923..215931926 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4885+18T>C | single nucleotide variant | not provided [RCV003824290] | Chr1:216088995 [GRCh38] Chr1:216262337 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.14857G>T (p.Asp4953Tyr) | single nucleotide variant | not provided [RCV003568426] | Chr1:215640669 [GRCh38] Chr1:215814011 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.6937G>A (p.Gly2313Ser) | single nucleotide variant | not provided [RCV003562729] | Chr1:215970645 [GRCh38] Chr1:216143987 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.4249C>T (p.Gln1417Ter) | single nucleotide variant | not provided [RCV003563939] | Chr1:216196555 [GRCh38] Chr1:216369897 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.12726T>C (p.Thr4242=) | single nucleotide variant | not provided [RCV003704391] | Chr1:215675185 [GRCh38] Chr1:215848527 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3812-16T>C | single nucleotide variant | not provided [RCV003731931] | Chr1:216198600 [GRCh38] Chr1:216371942 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.6642T>A (p.Tyr2214Ter) | single nucleotide variant | not provided [RCV003862200] | Chr1:215998902 [GRCh38] Chr1:216172244 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.5024del (p.Asp1675fs) | deletion | not provided [RCV003566646] | Chr1:216084841 [GRCh38] Chr1:216258183 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8388C>T (p.Cys2796=) | single nucleotide variant | not provided [RCV003566593] | Chr1:215878934 [GRCh38] Chr1:216052276 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8412A>C (p.Gly2804=) | single nucleotide variant | not provided [RCV003566614] | Chr1:215878910 [GRCh38] Chr1:216052252 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.8427T>C (p.Ser2809=) | single nucleotide variant | not provided [RCV003566628] | Chr1:215878895 [GRCh38] Chr1:216052237 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10686A>G (p.Glu3562=) | single nucleotide variant | not provided [RCV003680718] | Chr1:215782096 [GRCh38] Chr1:215955438 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13811+15C>G | single nucleotide variant | not provided [RCV003704382] | Chr1:215674085 [GRCh38] Chr1:215847427 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12753C>T (p.Ser4251=) | single nucleotide variant | not provided [RCV003676418] | Chr1:215675158 [GRCh38] Chr1:215848500 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10940-17T>C | single nucleotide variant | not provided [RCV003705509] | Chr1:215766805 [GRCh38] Chr1:215940147 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3317-2A>C | single nucleotide variant | not provided [RCV003683357] | Chr1:216200123 [GRCh38] Chr1:216373465 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.15519+3G>A | single nucleotide variant | not provided [RCV003732098] | Chr1:215628811 [GRCh38] Chr1:215802153 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4627+16A>C | single nucleotide variant | not provided [RCV003679524] | Chr1:216175236 [GRCh38] Chr1:216348578 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.785-2A>C | single nucleotide variant | not provided [RCV003552033] | Chr1:216327656 [GRCh38] Chr1:216500998 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.7121-12T>C | single nucleotide variant | not provided [RCV003678778] | Chr1:215934807 [GRCh38] Chr1:216108149 [GRCh37] Chr1:1q41 |
likely benign |
NC_000001.10:g.216373413A>G | single nucleotide variant | not provided [RCV003727639] | Chr1:216200071 [GRCh38] Chr1:216373413 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1645-12T>C | single nucleotide variant | not provided [RCV003728987] | Chr1:216292382 [GRCh38] Chr1:216465724 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.2442G>A (p.Gln814=) | single nucleotide variant | not provided [RCV003564397] | Chr1:216246952 [GRCh38] Chr1:216420294 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9966C>T (p.Phe3322=) | single nucleotide variant | not provided [RCV003822795] | Chr1:215790275 [GRCh38] Chr1:215963617 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.3300G>A (p.Glu1100=) | single nucleotide variant | not provided [RCV003733498] | Chr1:216207289 [GRCh38] Chr1:216380631 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13891G>A (p.Ala4631Thr) | single nucleotide variant | not provided [RCV003848450] | Chr1:215671214 [GRCh38] Chr1:215844556 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7344A>G (p.Pro2448=) | single nucleotide variant | not provided [RCV003734491] | Chr1:215900862 [GRCh38] Chr1:216074204 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7704T>C (p.Ile2568=) | single nucleotide variant | not provided [RCV003711084] | Chr1:215888945 [GRCh38] Chr1:216062287 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.7301-15T>C | single nucleotide variant | not provided [RCV003734492] | Chr1:215900920 [GRCh38] Chr1:216074262 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13731_13743del (p.Thr4577_Lys4578insTer) | deletion | not provided [RCV003711179] | Chr1:215674168..215674180 [GRCh38] Chr1:215847510..215847522 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.792_795del (p.Glu264fs) | deletion | not provided [RCV003705928] | Chr1:216327644..216327647 [GRCh38] Chr1:216500986..216500989 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.4987+18T>C | single nucleotide variant | not provided [RCV003841497] | Chr1:216086701 [GRCh38] Chr1:216260043 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.9055+3G>A | single nucleotide variant | USH2A-related condition [RCV003966921] | Chr1:215845821 [GRCh38] Chr1:216019163 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.15192A>G (p.Gln5064=) | single nucleotide variant | Retinal dystrophy [RCV003890496] | Chr1:215634564 [GRCh38] Chr1:215807906 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.15013A>C (p.Lys5005Gln) | single nucleotide variant | Retinal dystrophy [RCV003890497] | Chr1:215639194 [GRCh38] Chr1:215812536 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13907C>A (p.Pro4636His) | single nucleotide variant | Retinal dystrophy [RCV003890511] | Chr1:215671198 [GRCh38] Chr1:215844540 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13513T>C (p.Tyr4505His) | single nucleotide variant | Retinal dystrophy [RCV003890515] | Chr1:215674398 [GRCh38] Chr1:215847740 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13204C>T (p.Gln4402Ter) | single nucleotide variant | Retinal dystrophy [RCV003890519] | Chr1:215674707 [GRCh38] Chr1:215848049 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9205C>T (p.Pro3069Ser) | single nucleotide variant | Retinal dystrophy [RCV003890555] | Chr1:215844347 [GRCh38] Chr1:216017689 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.8276T>C (p.Ile2759Thr) | single nucleotide variant | Retinal dystrophy [RCV003890559] | Chr1:215879046 [GRCh38] Chr1:216052388 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.8105T>G (p.Met2702Arg) | single nucleotide variant | Retinal dystrophy [RCV003890562] | Chr1:215888544 [GRCh38] Chr1:216061886 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7572T>G (p.Ile2524Met) | single nucleotide variant | Retinal dystrophy [RCV003890570] | Chr1:215900097 [GRCh38] Chr1:216073439 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.15205A>G (p.Lys5069Glu) | single nucleotide variant | Retinal dystrophy [RCV003890495] | Chr1:215634551 [GRCh38] Chr1:215807893 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14916C>T (p.Arg4972=) | single nucleotide variant | Retinal dystrophy [RCV003890500] | Chr1:215640610 [GRCh38] Chr1:215813952 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.13175G>C (p.Arg4392Thr) | single nucleotide variant | Retinal dystrophy [RCV003890520] | Chr1:215674736 [GRCh38] Chr1:215848078 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.11468T>C (p.Val3823Ala) | single nucleotide variant | Retinal dystrophy [RCV003890534] | Chr1:215743257 [GRCh38] Chr1:215916599 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10939+1G>T | single nucleotide variant | Retinal dystrophy [RCV003890539] | Chr1:215779842 [GRCh38] Chr1:215953184 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.10473A>G (p.Arg3491=) | single nucleotide variant | Retinal dystrophy [RCV003890546] | Chr1:215782850 [GRCh38] Chr1:215956192 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.9265G>A (p.Val3089Ile) | single nucleotide variant | Retinal dystrophy [RCV003890554] | Chr1:215838097 [GRCh38] Chr1:216011439 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5002G>C (p.Gly1668Arg) | single nucleotide variant | Retinal dystrophy [RCV003890588] | Chr1:216084863 [GRCh38] Chr1:216258205 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4996C>G (p.Gln1666Glu) | single nucleotide variant | Retinal dystrophy [RCV003890589] | Chr1:216084869 [GRCh38] Chr1:216258211 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4431_4448del (p.Ile1478_Ile1483del) | deletion | Retinal dystrophy [RCV003890592] | Chr1:216175431..216175448 [GRCh38] Chr1:216348773..216348790 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.4083A>C (p.Ala1361=) | single nucleotide variant | Retinal dystrophy [RCV003890595] | Chr1:216196721 [GRCh38] Chr1:216370063 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.7972A>G (p.Thr2658Ala) | single nucleotide variant | Retinal dystrophy [RCV003890564] | Chr1:215888677 [GRCh38] Chr1:216062019 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.6690G>C (p.Glu2230Asp) | single nucleotide variant | Retinal dystrophy [RCV003890577] | Chr1:215993135 [GRCh38] Chr1:216166477 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2746A>T (p.Ile916Phe) | single nucleotide variant | Retinal dystrophy [RCV003890600] | Chr1:216246648 [GRCh38] Chr1:216419990 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly) | single nucleotide variant | Usher syndrome type 2A [RCV003985196] | Chr1:215844397 [GRCh38] Chr1:216017739 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg) | single nucleotide variant | Usher syndrome type 2A [RCV003985204] | Chr1:215650762 [GRCh38] Chr1:215824104 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.15519+1dup | duplication | Retinal dystrophy [RCV003890494] | Chr1:215628812..215628813 [GRCh38] Chr1:215802154..215802155 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14702C>T (p.Pro4901Leu) | single nucleotide variant | Retinal dystrophy [RCV003890502] | Chr1:215647611 [GRCh38] Chr1:215820953 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14579A>G (p.His4860Arg) | single nucleotide variant | Retinal dystrophy [RCV003890503] | Chr1:215648531 [GRCh38] Chr1:215821873 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13492A>G (p.Thr4498Ala) | single nucleotide variant | Retinal dystrophy [RCV003890516] | Chr1:215674419 [GRCh38] Chr1:215847761 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13385T>G (p.Ile4462Ser) | single nucleotide variant | Retinal dystrophy [RCV003890517] | Chr1:215674526 [GRCh38] Chr1:215847868 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13021T>G (p.Cys4341Gly) | single nucleotide variant | Retinal dystrophy [RCV003890522] | Chr1:215674890 [GRCh38] Chr1:215848232 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12416del (p.Gly4139fs) | deletion | Retinal dystrophy [RCV003890528] | Chr1:215675495 [GRCh38] Chr1:215848837 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.10425G>T (p.Arg3475Ser) | single nucleotide variant | Retinal dystrophy [RCV003890547] | Chr1:215782898 [GRCh38] Chr1:215956240 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5573G>A (p.Gly1858Asp) | single nucleotide variant | Retinal dystrophy [RCV003890585] | Chr1:216073300 [GRCh38] Chr1:216246642 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5249A>G (p.Asn1750Ser) | single nucleotide variant | Retinal dystrophy [RCV003890587] | Chr1:216083505 [GRCh38] Chr1:216256847 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4580A>G (p.Tyr1527Cys) | single nucleotide variant | Retinal dystrophy [RCV003890591] | Chr1:216175299 [GRCh38] Chr1:216348641 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1912_1913insCACAG (p.Cys638fs) | insertion | Retinal dystrophy [RCV003890604] | Chr1:216289338..216289339 [GRCh38] Chr1:216462680..216462681 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7232A>C (p.Gln2411Pro) | single nucleotide variant | Retinal dystrophy [RCV003890575] | Chr1:215934684 [GRCh38] Chr1:216108026 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.6806-2A>C | single nucleotide variant | Retinal dystrophy [RCV003890576] | Chr1:215970778 [GRCh38] Chr1:216144120 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7932G>C (p.Trp2644Cys) | single nucleotide variant | Retinal dystrophy [RCV003890566] | Chr1:215888717 [GRCh38] Chr1:216062059 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val) | single nucleotide variant | Retinal dystrophy [RCV003890504] | Chr1:215648540 [GRCh38] Chr1:215821882 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.14205del (p.Glu4736fs) | deletion | Retinal dystrophy [RCV003890505] | Chr1:215650730 [GRCh38] Chr1:215824072 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.13916A>C (p.His4639Pro) | single nucleotide variant | Retinal dystrophy [RCV003890510] | Chr1:215671189 [GRCh38] Chr1:215844531 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter) | single nucleotide variant | Retinal dystrophy [RCV003890527] | Chr1:215675464 [GRCh38] Chr1:215848806 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.11423A>G (p.Asn3808Ser) | single nucleotide variant | Retinal dystrophy [RCV003890535] | Chr1:215743302 [GRCh38] Chr1:215916644 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10159A>G (p.Ile3387Val) | single nucleotide variant | Retinal dystrophy [RCV003890548] | Chr1:215790082 [GRCh38] Chr1:215963424 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.9201T>A (p.Asn3067Lys) | single nucleotide variant | Retinal dystrophy [RCV003890556] | Chr1:215844351 [GRCh38] Chr1:216017693 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.8339T>A (p.Val2780Asp) | single nucleotide variant | Retinal dystrophy [RCV003890558] | Chr1:215878983 [GRCh38] Chr1:216052325 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.3351del (p.Tyr1118fs) | deletion | Retinal dystrophy [RCV003890598] | Chr1:216200087 [GRCh38] Chr1:216373429 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.2866A>G (p.Thr956Ala) | single nucleotide variant | Retinal dystrophy [RCV003890599] | Chr1:216232080 [GRCh38] Chr1:216405422 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2098G>A (p.Gly700Arg) | single nucleotide variant | Retinal dystrophy [RCV003890603] | Chr1:216250972 [GRCh38] Chr1:216424314 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1021C>T (p.Pro341Ser) | single nucleotide variant | Retinal dystrophy [RCV003890613] | Chr1:216325427 [GRCh38] Chr1:216498769 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7847C>A (p.Thr2616Asn) | single nucleotide variant | Retinal dystrophy [RCV003890568] | Chr1:215888802 [GRCh38] Chr1:216062144 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5865_5866del (p.Ser1956fs) | deletion | Retinal dystrophy [RCV003890580] | Chr1:216070284..216070285 [GRCh38] Chr1:216243626..216243627 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.5896T>C (p.Leu1966=) | single nucleotide variant | USH2A-related condition [RCV003913992] | Chr1:216070254 [GRCh38] Chr1:216243596 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.12226C>T (p.Gln4076Ter) | single nucleotide variant | Retinal dystrophy [RCV003890532] | Chr1:215680217 [GRCh38] Chr1:215853559 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.10810G>T (p.Val3604Leu) | single nucleotide variant | Retinal dystrophy [RCV003890541] | Chr1:215779972 [GRCh38] Chr1:215953314 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.9110G>C (p.Arg3037Pro) | single nucleotide variant | Retinal dystrophy [RCV003890557] | Chr1:215844442 [GRCh38] Chr1:216017784 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.3650A>G (p.Asp1217Gly) | single nucleotide variant | Retinal dystrophy [RCV003890596] | Chr1:216199788 [GRCh38] Chr1:216373130 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2373T>G (p.Asn791Lys) | single nucleotide variant | Retinal dystrophy [RCV003890602] | Chr1:216247021 [GRCh38] Chr1:216420363 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1654T>A (p.Cys552Ser) | single nucleotide variant | Retinal dystrophy [RCV003890607] | Chr1:216292361 [GRCh38] Chr1:216465703 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10584T>G (p.Asn3528Lys) | single nucleotide variant | Retinal dystrophy [RCV003890542] | Chr1:215782739 [GRCh38] Chr1:215956081 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7416G>C (p.Gln2472His) | single nucleotide variant | Retinal dystrophy [RCV003890572] | Chr1:215900790 [GRCh38] Chr1:216074132 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5776+1del | deletion | Retinal dystrophy [RCV003890582] | Chr1:216073096 [GRCh38] Chr1:216246438 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1645-2A>C | single nucleotide variant | Retinal dystrophy [RCV003890608] | Chr1:216292372 [GRCh38] Chr1:216465714 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.8075C>T (p.Pro2692Leu) | single nucleotide variant | Retinal dystrophy [RCV003890563] | Chr1:215888574 [GRCh38] Chr1:216061916 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7949C>G (p.Pro2650Arg) | single nucleotide variant | Retinal dystrophy [RCV003890565] | Chr1:215888700 [GRCh38] Chr1:216062042 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14103A>G (p.Glu4701=) | single nucleotide variant | Retinal dystrophy [RCV003890508] | Chr1:215671002 [GRCh38] Chr1:215844344 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.14010C>A (p.Tyr4670Ter) | single nucleotide variant | Retinal dystrophy [RCV003890509] | Chr1:215671095 [GRCh38] Chr1:215844437 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.12782C>T (p.Ala4261Val) | single nucleotide variant | Retinal dystrophy [RCV003890524] | Chr1:215675129 [GRCh38] Chr1:215848471 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12730A>C (p.Asn4244His) | single nucleotide variant | Retinal dystrophy [RCV003890525] | Chr1:215675181 [GRCh38] Chr1:215848523 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn) | single nucleotide variant | Retinal dystrophy [RCV003890530] | Chr1:215675606 [GRCh38] Chr1:215848948 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10532A>G (p.Asp3511Gly) | single nucleotide variant | Retinal dystrophy [RCV003890543] | Chr1:215782791 [GRCh38] Chr1:215956133 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.10513_10514del (p.Pro3505fs) | deletion | Retinal dystrophy [RCV003890545] | Chr1:215782809..215782810 [GRCh38] Chr1:215956151..215956152 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.9958G>A (p.Gly3320Ser) | single nucleotide variant | Retinal dystrophy [RCV003890552] | Chr1:215798907 [GRCh38] Chr1:215972249 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.5391_5395del (p.Asn1797fs) | deletion | Retinal dystrophy [RCV003890586] | Chr1:216078266..216078270 [GRCh38] Chr1:216251608..216251612 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.1562A>G (p.His521Arg) | single nucleotide variant | Retinal dystrophy [RCV003890609] | Chr1:216321965 [GRCh38] Chr1:216495307 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.1150T>C (p.Tyr384His) | single nucleotide variant | Retinal dystrophy [RCV003890612] | Chr1:216324346 [GRCh38] Chr1:216497688 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7660C>T (p.Gln2554Ter) | single nucleotide variant | Retinal dystrophy [RCV003890569] | Chr1:215888989 [GRCh38] Chr1:216062331 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.7499T>G (p.Leu2500Arg) | single nucleotide variant | Retinal dystrophy [RCV003890571] | Chr1:215900170 [GRCh38] Chr1:216073512 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.6643C>G (p.Leu2215Val) | single nucleotide variant | Retinal dystrophy [RCV003890579] | Chr1:215998901 [GRCh38] Chr1:216172243 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.2609G>T (p.Cys870Phe) | single nucleotide variant | Retinal dystrophy [RCV003890601] | Chr1:216246785 [GRCh38] Chr1:216420127 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1267G>T (p.Gly423Ter) | single nucleotide variant | Retinal dystrophy [RCV003890610] | Chr1:216324229 [GRCh38] Chr1:216497571 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.3157+3_3157+5delinsTAA | indel | not provided [RCV003887779] | Chr1:216217382..216217384 [GRCh38] Chr1:216390724..216390726 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14142A>T (p.Ala4714=) | single nucleotide variant | Retinal dystrophy [RCV003890507] | Chr1:215650793 [GRCh38] Chr1:215824135 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln) | single nucleotide variant | Retinal dystrophy [RCV003890523] | Chr1:215675048 [GRCh38] Chr1:215848390 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12463C>T (p.Pro4155Ser) | single nucleotide variant | Retinal dystrophy [RCV003890526] | Chr1:215675448 [GRCh38] Chr1:215848790 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.12407C>T (p.Thr4136Ile) | single nucleotide variant | Retinal dystrophy [RCV003890529] | Chr1:215675504 [GRCh38] Chr1:215848846 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.11053T>C (p.Trp3685Arg) | single nucleotide variant | Retinal dystrophy [RCV003890536] | Chr1:215759838 [GRCh38] Chr1:215933180 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.10976C>T (p.Thr3659Ile) | single nucleotide variant | Retinal dystrophy [RCV003890538] | Chr1:215766752 [GRCh38] Chr1:215940094 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10839T>C (p.Pro3613=) | single nucleotide variant | Retinal dystrophy [RCV003890540] | Chr1:215779943 [GRCh38] Chr1:215953285 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10157A>C (p.Lys3386Thr) | single nucleotide variant | Retinal dystrophy [RCV003890549] | Chr1:215790084 [GRCh38] Chr1:215963426 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.10024G>A (p.Gly3342Arg) | single nucleotide variant | Retinal dystrophy [RCV003890551] | Chr1:215790217 [GRCh38] Chr1:215963559 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13887G>T (p.Glu4629Asp) | single nucleotide variant | Retinal dystrophy [RCV003890513] | Chr1:215671218 [GRCh38] Chr1:215844560 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14950C>G (p.Pro4984Ala) | single nucleotide variant | Retinal dystrophy [RCV003890498] | Chr1:215640576 [GRCh38] Chr1:215813918 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.14739C>A (p.Asn4913Lys) | single nucleotide variant | Retinal dystrophy [RCV003890501] | Chr1:215647574 [GRCh38] Chr1:215820916 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.13834dup (p.Cys4612fs) | duplication | Retinal dystrophy [RCV003890514] | Chr1:215671270..215671271 [GRCh38] Chr1:215844612..215844613 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.12270T>C (p.Pro4090=) | single nucleotide variant | Retinal dystrophy [RCV003890531] | Chr1:215680173 [GRCh38] Chr1:215853515 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.13305del (p.Lys4435fs) | deletion | Retinal dystrophy [RCV003890518] | Chr1:215674606 [GRCh38] Chr1:215847948 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.10149C>G (p.Cys3383Trp) | single nucleotide variant | Retinal dystrophy [RCV003890550] | Chr1:215790092 [GRCh38] Chr1:215963434 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.9770A>G (p.Asn3257Ser) | single nucleotide variant | Retinal dystrophy [RCV003890553] | Chr1:215799095 [GRCh38] Chr1:215972437 [GRCh37] Chr1:1q41 |
likely benign |
NM_206933.4(USH2A):c.4241C>T (p.Ala1414Val) | single nucleotide variant | Retinal dystrophy [RCV003890593] | Chr1:216196563 [GRCh38] Chr1:216369905 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.4231A>G (p.Ile1411Val) | single nucleotide variant | Retinal dystrophy [RCV003890594] | Chr1:216196573 [GRCh38] Chr1:216369915 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1774_1792del (p.Pro592fs) | deletion | Retinal dystrophy [RCV003890606] | Chr1:216292223..216292241 [GRCh38] Chr1:216465565..216465583 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.7870C>T (p.Pro2624Ser) | single nucleotide variant | Retinal dystrophy [RCV003890567] | Chr1:215888779 [GRCh38] Chr1:216062121 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.199T>C (p.Cys67Arg) | single nucleotide variant | Retinal dystrophy [RCV003890615] | Chr1:216422138 [GRCh38] Chr1:216595480 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.5629G>T (p.Ala1877Ser) | single nucleotide variant | Retinal dystrophy [RCV003890584] | Chr1:216073244 [GRCh38] Chr1:216246586 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.3619A>G (p.Ile1207Val) | single nucleotide variant | Retinal dystrophy [RCV003890597] | Chr1:216199819 [GRCh38] Chr1:216373161 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.8211del (p.Asp2738fs) | deletion | Retinal dystrophy [RCV003890561] | Chr1:215888438 [GRCh38] Chr1:216061780 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.1907_1911del (p.Asp636fs) | deletion | Retinal dystrophy [RCV003890605] | Chr1:216289340..216289344 [GRCh38] Chr1:216462682..216462686 [GRCh37] Chr1:1q41 |
pathogenic |
NM_206933.4(USH2A):c.780A>G (p.Leu260=) | single nucleotide variant | Retinal dystrophy [RCV003890614] | Chr1:216364957 [GRCh38] Chr1:216538299 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.7252C>T (p.Gln2418Ter) | single nucleotide variant | Retinal dystrophy [RCV003890574] | Chr1:215934664 [GRCh38] Chr1:216108006 [GRCh37] Chr1:1q41 |
likely pathogenic |
NM_206933.4(USH2A):c.5784G>A (p.Leu1928=) | single nucleotide variant | Retinal dystrophy [RCV003890581] | Chr1:216072962 [GRCh38] Chr1:216246304 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.120G>A (p.Leu40=) | single nucleotide variant | Retinal dystrophy [RCV003890616] | Chr1:216422217 [GRCh38] Chr1:216595559 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.35T>G (p.Phe12Cys) | single nucleotide variant | Retinal dystrophy [RCV003890617] | Chr1:216422302 [GRCh38] Chr1:216595644 [GRCh37] Chr1:1q41 |
uncertain significance |
NM_206933.4(USH2A):c.1204AAG[1] (p.Lys403del) | microsatellite | Retinal dystrophy [RCV003890611] | Chr1:216324287..216324289 [GRCh38] Chr1:216497629..216497631 [GRCh37] Chr1:1q41 |
uncertain significance |
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. |
D1S2827 |
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143XF10 |
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SHGC-76355 |
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RH79627 |
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AL033963 |
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AL033887 |
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AL034147 |
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AL034204 |
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SHGC-78958 |
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SHGC-84884 |
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RH119862 |
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RH118881 |
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G62491 |
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G63076 |
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SHGC-106817 |
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SHGC-132295 |
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SHGC-144902 |
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AL010107 |
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AL009345 |
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SHGC-111484 |
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SHGC-155213 |
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AL009855 |
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AL009286 |
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D1S2086 |
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AFM248tc1 |
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AL009851 |
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D1S2171 |
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AFM268zd1 |
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AL009491 |
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D1S2435 |
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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 |
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: |
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RefSeq Acc Id: | ENST00000366942 ⟹ ENSP00000355909 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000463147 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481786 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000674083 ⟹ ENSP00000501296 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_007123 ⟹ NP_009054 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_206933 ⟹ NP_996816 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_009054 | (Get FASTA) | NCBI Sequence Viewer |
NP_996816 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC23748 | (Get FASTA) | NCBI Sequence Viewer |
AAF75819 | (Get FASTA) | NCBI Sequence Viewer | |
AAS47698 | (Get FASTA) | NCBI Sequence Viewer | |
AKU84912 | (Get FASTA) | NCBI Sequence Viewer | |
BDU62119 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000305941 | ||
ENSP00000305941.3 | |||
ENSP00000355909 | |||
ENSP00000355909.3 | |||
ENSP00000501296.1 | |||
GenBank Protein | O75445 | (Get FASTA) | NCBI Sequence Viewer |
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 |
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 |
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: |
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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 |
PROTEIN-TYROSINE-PHOSPHATASE | 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 |
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 |