ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome

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Total variants: 66
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HGVS dbSNP
NC_000001.10:g.(?_216011333)_(216040512_?)del
NC_000010.11:g.(?_71645831)_(71646617_?)del
NM_000260.3(MYO7A):c.22dup (p.Asp8Glyfs) rs1555051390
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1798-7_1800delinsATCGGCTGCT
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1977del (p.Gly660fs) rs1555078942
NM_000260.4(MYO7A):c.2905-1G>A rs1171417339
NM_000260.4(MYO7A):c.324C>A (p.Tyr108Ter) rs116892396
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3728C>T (p.Pro1243Leu) rs750358148
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.4(MYO7A):c.6551C>T (p.Thr2184Met) rs1383147250
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_001384140.1(PCDH15):c.475-2204_594+1766del
NM_007123.5(USH2A):c.3831_3834delinsG (p.Leu1278del) rs1215540106
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.4(ADGRV1):c.14517G>C (p.Gln4839His) rs1554117973
NM_032119.4(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.8807C>G (p.Ser2936Ter) rs1554090072
NM_032119.4(ADGRV1):c.9749-2del
NM_033056.4(PCDH15):c.1167del (p.Asn389fs) rs1591095476
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_206933.2(USH2A):c.(1971+1_1972-1)_(2993+1_2994-1)dup
NM_206933.2(USH2A):c.1644+10004_1972-12164del
NM_206933.3(USH2A):c.10183-1375_10387+1389del
NM_206933.3(USH2A):c.11694del (p.Asn3899fs) rs1553257502
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.3(USH2A):c.12309del (p.Phe4103fs) rs1553252528
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.651+1G>A rs1553257761
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.12295-3T>A rs111033518
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.3158-6A>G rs397518010
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
Single allele

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