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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:202758-31747772
GRCh38:
Chr11:202758-31726224
LOC108254681, INS, UEVLD, OR10A3, RBMXL2, HBG1, OR51I2, TALDO1, MIR675, IRAG1-AS1, MIR4694, AKIP1, LOC121392887, LOC121392889, FANCF, SNORD147, MIR483, SLC25A22, CCDC179, KRTAP5-3, TIMM10B, SOX6, OR52B6, CRACR2B, IFITM2, OR2D3, OR51B2, TOLLIP, LINC02545, FHIP1B, OR51I1, IRAG1, DENND5A, LINC02859, TNNT3, SLC22A18AS, OR52N2, SCUBE2, OR52E2, SAA1, LINC02699, RRAS2, LOC110121434, CALCB, MIR3159, OR52H1, LOC110120848, ART5, LOC109951029, MYOD1, SLC22A18, PSMD13, LOC108178984, APBB1, LOC106099063, COPB1, IPO7, OR52E5, TPP1, OR2AG1, SPON1, OR56B1, LOC121832784, OR52K1, TSPAN4, LOC107133510, LOC112136092, KCNQ1-AS1, TPH1, OR51T1, NAV2-AS2, SNORD97, OR10A5, OR51Q1, A-GAMMA3'E, OR56B4, LOC121832786, PRR33, OR51A2, LOC283299, BDNF-AS, SYT9, SLC17A6, LOC112067715, KRTAP5-1, C11orf40, HTATIP2, LINC02547, SIRT3, LOC644656, RASSF10, INSC, OR2AG2, BET1L, METTL15, LINC02749, LOC116216126, MIR6124, OVCH2, H19, LOC102724784, FAM99B, LOC101928008, KCNA4, ZNF214, ZBED5, LOC112042781, HPX, HBG2, SPTY2D1, LINC02546, DKK3, HBB-3'HS1, IGF2, OR51D1, LOC113939927, LGR4-AS1, OR52I2, RPS13, CTR9, OR51S1, LOC113939921, OR51A7, PKP3, EPS8L2, HBB-HS-111, PRMT3, PGGHG, SBF2, LINC01495, OR51J1, TNNI2, B4GALNT4, PTH, OR52B4, LINC02726, AMPD3, C11orf42, OR52E6, ELP4, RRP8, WEE1, OR56A3, RASSF10-DT, MIR4298, DBX1, LOC106865369, LOC106783508, LINC02708, IFITM3, OR51F2, OR5P2, LOC112081391, OTOG, TMEM9B-AS1, DCDC1, ANO3-AS1, LOC106099064, OR52I1, TMEM80, RASSF7, LOC121832785, OR52B2, MIR5691, BDNF, MRGPRG-AS1, LGR4, SIGIRR, LOC121392892, CARS1, CYP2R1, OR56B2P, ASCL3, IFITM1, TH, MIR210, SPTY2D1OS, IFITM10, NLRP10, ADM, OR10A6, C11orf21, LOC111718490, ART1, DENND2B, DEAF1, LINC00678, PHLDA2, SBF2-AS1, LOC110121483, PGAP2, KRTAP5-6, OR52P1P, OR51G2, DCHS1, NAV2, OR52N5, LOC114827852, LOC112067713, IMMP1L, OR52A5, ANO9, LINC02683, STIM1-AS1, GAS2, MUC5B-AS1, TRIM21, INS-IGF2, SYT8, OR6A2, LOC112081405, MIR8070, ANO3, SAA2, BTBD10, TMEM86A, LOC105376575, LOC101928053, USH1C, CYB5R2, LOC112136080, PARVA, LINC01616, SVIP, HOTS, LOC108281125, UBQLNL, LOC112136094, TSPAN32, ANO5, LOC116216127, MTRNR2L8, MPPED2, LOC112067716, LOC107988023, MIR4687, LMNTD2, DUSP8, ARL14EP, DNAJC24, LOC110121471, MIR4299, CALCA, CD81-AS1, LOC112067714, KRTAP5-AS1, LOC110120926, ARFIP2, OR51G1, SLC6A5, CAND1.11, OR10A4, TRIM68, SAA4, LIN7C, OR51E2, PIK3C2A, LOC110121488, OR52E4, SNORD131, TRIM22, SMPD1, OR52L1, SNORA23, CDKN1C, ASCL2, LOC121392888, RPLP2, HBB-HS-107, LOC171391, TMEM41B, LOC110013311, LOC111413037, LOC110121453, OR52E8, TSSC4, LINC01219, RIC3-DT, GTF2H1, NLRP14, ZNF143, LDHAL6A, NAV2-AS5, LUZP2, LOC106799843, OR52E1, OR51L1, HS-E1, LOC121832788, BBOX1-AS1, STK33, CSRP3-AS1, LOC121392890, MRPL23-AS1, LOC112067718, OR51F1, ZBED5-AS1, MIR610, LOC106099062, SNORA54, CARS1-AS1, LINC02755, LINC02682, NELL1, SNORA3A, OR5P3, LOC113939920, LINC02548, OR51A4, LOC113939928, PIDD1, LOC105980073, KRTAP5-5, LINC02751, RPL27A, CTSD, LOC112067717, LOC111982890, TRIM6, ZNF215, MUC6, PHRF1, TOLLIP-DT, MIR6744, MRGPRX4, SNORD14B, MICALCL, OR56A4, OR51B4, LINC02718, PNPLA2, HRAS, MUC5B, LOC105980005, C11orf58, LOC143666, HBB, ADM-DT, MIR7847, LOC110006319, NCR3LG1, LOC105274310, MUC15, LOC112042782, LOC110120922, KCNQ1DN, OR51M1, LOC121832783, PTDSS2, LOC110120947, NRIP3, OR52R1, CCKBR, LOC116216129, PSMA1, MICAL2, IGSF22, RNF141, LOC112067719, TUB-AS1, PTPN5, OR51C1P, LSP1, SNORA52, CSNK2A3, BRSK2, NAV2-AS4, MIR4486, LYVE1, BGLT3, ILK, MRGPRX1, RNH1, SERGEF, OR56A5, PPFIBP2, MOB2, MMP26, LOC121392891, OR51V1, LOC121392893, POLR2L, NUP98, MIR302E, LOC106736470, UBQLN3, LOC100506258, IFITM5, OR52J3, TRIM66, FSHB, RIC8A, OR52K2, LDHA, LMO1, LOC111365162, LINC02709, FAM99A, LOC106099065, LOC112081404, MIR8087, LOC121832787, TAF10, KIF18A, SAAL1, MRPL23, LOC102724957, MUC5AC, PAX6_HS8, PAX6DRR, LOC110121340, H19-ICR, LOC110011217, TRIM3, OR52M1, MIR6743, MIR210HG, MRGPRE, LOC112081400, HBE1, OR2D2, NAV2-AS6, KRTAP5-4, OR52D1, C11orf16, PANO1, LINC02686, LOC112067712, CHID1, KRTAP5-2, MRGPRX2, OR52N1, MIR4686, OR52N4, LOC121832782, CCDC34, MUC2, PDE3B, LOC110121343, TRIM34, LOC112136081, MIR8068, CSRP3, NRIP3-DT, IGF2-AS, SLC5A12, CDHR5, KCNJ11, LOC101927708, MIR8054, TSG101, OR51B5, LINC02742, FAR1, DRD4, CD151, ABCC8, PLEKHA7, LOC110008579, LOC113939924, EIF4G2, OLFML1, SCT, NLRP6, CASC23, ARNTL, LOC110121487, NAP1L4, OR51B6, SWAP70, TUB, AP2A2, RIC3, TEAD1, E2F8, SNORA3B, GALNT18, IRF7, HPS5, LOC112067720, OR56A1, TMEM9B, CNGA4, EIF3F, GATD1, ZNF195, SAA2-SAA4, KCNQ1, LOC110121378, TRPM5, MIR6073, MRPL17, CHRNA10, FIBIN, LINC00958, TRIM5, OSBPL5, HBD, LOC108178983, SNORD14A, MRGPRX3, MPPED2-AS1, BBOX1, OR10A2, LINC02758, RHOG, CD81, HBB-LCR, KCNQ1OT1, NUCB2, LINC02729, LOC116216128, LRRC56, LOC105376526, DNHD1, MRGPRG, ARL14EP-DT, KCNC1, OR52W1, LOC121832789, TRL-CAA5-1, LOC109623489, STIM1, CAVIN3, LINC01150, LINC02688, OR51E1, RRM1, CEND1, USP47, LDHC, LMNTD2-AS1, OR52A1, MIR4485, ZDHHC13
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059747
2.
GRCh37:
Chr11:446754-18926289
GRCh38:
Chr11:446754-18904742
SERGEF, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA23, SNORA3A, SNORA3B, SNORA52, SNORA54, SNORD131, SNORD147, SNORD14A, SNORD14B, SNORD97, SOX6, SPON1, SPTY2D1, SPTY2D1OS, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, TAF10, TALDO1, TEAD1, TH, TIMM10B, TMEM41B, TMEM80, TMEM86A, TMEM9B, TMEM9B-AS1, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TPH1, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRL-CAA5-1, TRPM5, TSG101, TSPAN32, TSPAN4, TSSC4, TUB, TUB-AS1, UBQLN3, UBQLNL, UEVLD, USH1C, USP47, WEE1, ZBED5, ZBED5-AS1, ZNF143, ZNF195, ZNF214, ZNF215, A-GAMMA3'E, ABCC8, ADM, ADM-DT, AKIP1, AMPD3, AP2A2, APBB1, ARFIP2, ARNTL, ART1, ART5, ASCL2, ASCL3, BGLT3, BRSK2, BTBD10, C11orf16, C11orf21, C11orf40, C11orf42, C11orf58, CALCA, CALCB, CAND1.11, CARS1, CARS1-AS1, CASC23, CAVIN3, CCKBR, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, COPB1, CRACR2B, CSNK2A3, CTR9, CTSD, CYB5R2, CYP2R1, DCHS1, DEAF1, DENND2B, DENND5A, DKK3, DNHD1, DRD4, DUSP8, EIF3F, EIF4G2, EPS8L2, FAM99A, FAM99B, FAR1, FHIP1B, GALNT18, GATD1, GTF2H1, H19, H19-ICR, HBB, HBB-3'HS1, HBB-HS-107, HBB-HS-111, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HPS5, HPX, HRAS, HS-E1, IFITM10, IGF2, IGF2-AS, IGSF22, ILK, INS, INS-IGF2, INSC, IPO7, IRAG1, IRAG1-AS1, IRF7, KCNC1, KCNJ11, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LDHA, LDHAL6A, LDHC, LINC00958, LINC01150, LINC01219, LINC02545, LINC02547, LINC02548, LINC02682, LINC02683, LINC02688, LINC02708, LINC02709, LINC02729, LINC02749, LINC02751, LMNTD2, LMNTD2-AS1, LMO1, LOC100506258, LOC101927708, LOC101928008, LOC101928053, LOC102724784, LOC102724957, LOC105274310, LOC105376526, LOC105376575, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106736470, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC107988023, LOC108254681, LOC108281125, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110120848, LOC110120922, LOC110120926, LOC110120947, LOC110121340, LOC110121343, LOC110121378, LOC110121434, LOC110121453, LOC110121471, LOC110121483, LOC111413037, LOC111718490, LOC111982890, LOC112042781, LOC112042782, LOC112067712, LOC112067713, LOC112067714, LOC112067715, LOC112067716, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216127, LOC116216128, LOC116216129, LOC121392887, LOC121392888, LOC121392889, LOC121392890, LOC121392891, LOC121392892, LOC121832782, LOC121832783, LOC121832784, LOC121832785, LOC121832786, LOC121832787, LOC121832788, LOC143666, LOC171391, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MIR302E, MIR3159, MIR4298, MIR4299, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6073, MIR6124, MIR6744, MIR675, MIR7847, MIR8070, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRGPRX3, MRGPRX4, MRPL17, MRPL23, MRPL23-AS1, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, MYOD1, NAP1L4, NCR3LG1, NLRP10, NLRP14, NRIP3, NRIP3-DT, NUCB2, NUP98, OLFML1, OR10A2, OR10A3, OR10A4, OR10A5, OR10A6, OR2AG1, OR2AG2, OR2D2, OR2D3, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E1, OR52E2, OR52E4, OR52E5, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52P1P, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B2P, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OTOG, OVCH2, PANO1, PARVA, PDE3B, PGAP2, PHLDA2, PHRF1, PIDD1, PIK3C2A, PLEKHA7, PNPLA2, POLR2L, PPFIBP2, PRR33, PSMA1, PTDSS2, PTH, PTPN5, RASSF10, RASSF10-DT, RASSF7, RBMXL2, RHOG, RIC3, RIC3-DT, RNF141, RNH1, RPL27A, RPLP2, RPS13, RRAS2, RRM1, RRP8, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SBF2, SBF2-AS1, SCT, SCUBE2
See casesPathogenic
(Apr 30, 2010)
no assertion criteria providedVCV000144515
3.
GRCh37:
Chr11:17515452
GRCh38:
Chr11:17493905
USH1CUsher syndrome, type 1CUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000878500
4.
GRCh37:
Chr11:17515459-17515460
GRCh38:
Chr11:17493912-17493913
USH1CRetinitis pigmentosa-deafness syndrome, Nonsyndromic Hearing Loss, RecessiveBenign
(Jun 14, 2016)
criteria provided, single submitterVCV000303793
5.
GRCh37:
Chr11:17515474
GRCh38:
Chr11:17493927
USH1CUsher syndrome, type 1CLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000303794
6.
GRCh37:
Chr11:17515503
GRCh38:
Chr11:17493956
USH1CUsher syndrome, type 1CUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000303795
7.
GRCh37:
Chr11:17515638
GRCh38:
Chr11:17494091
USH1CUsher syndrome, type 1CUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000879077
8.
GRCh37:
Chr11:17515668
GRCh38:
Chr11:17494121
USH1CUsher syndrome, type 1C, not provided, Deafness, autosomal recessive 18
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000303796
9.
GRCh37:
Chr11:17515693
GRCh38:
Chr11:17494146
USH1CDeafness, autosomal recessive 18, Usher syndrome, type 1C, not provided
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000303797
10.
GRCh37:
Chr11:17515739
GRCh38:
Chr11:17494192
USH1CUsher syndrome, type 1CUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000303798
11.
GRCh37:
Chr11:17515748
GRCh38:
Chr11:17494201
USH1CUsher syndrome, type 1CLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000879078
12.
GRCh37:
Chr11:17515762
GRCh38:
Chr11:17494215
USH1CUsher syndrome, type 1CUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000879079
13.
GRCh37:
Chr11:17515769
GRCh38:
Chr11:17494222
USH1CUsher syndrome, type 1CUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000879080
14.
GRCh37:
Chr11:17515784
GRCh38:
Chr11:17494237
USH1CUsher syndrome, type 1CUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000303799
15.
GRCh37:
Chr11:17515833
GRCh38:
Chr11:17494286
USH1Cnot specified, not provided, Usher syndrome, type 1C,
Deafness, autosomal recessive 18
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000262730
16.
GRCh37:
Chr11:17515837
GRCh38:
Chr11:17494290
USH1CUsher syndrome, type 1C, not providedLikely benign
(Aug 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000303800
17.
GRCh37:
Chr11:17515878
GRCh38:
Chr11:17494331
USH1Cnot providedLikely benign
(Oct 18, 2020)
criteria provided, single submitterVCV001188218
18.
GRCh37:
Chr11:17515883
GRCh38:
Chr11:17494336
USH1CR899Lnot providedLikely benign
(Nov 20, 2018)
criteria provided, single submitterVCV000734763
19.
GRCh37:
Chr11:17515883-17515884
GRCh38:
Chr11:17494336-17494337
USH1CR899fsUsher syndrome, type 1C, Deafness, autosomal recessive 18Uncertain significance
(Nov 16, 2017)
criteria provided, single submitterVCV000555084
20.
GRCh37:
Chr11:17515884
GRCh38:
Chr11:17494337
USH1CR899Gnot providedUncertain significance
(May 15, 2018)
criteria provided, single submitterVCV000618472
21.
GRCh37:
Chr11:17515898
GRCh38:
Chr11:17494351
USH1CG894fsUsher syndrome, type 1C, Deafness, autosomal recessive 18Uncertain significance
(Jun 22, 2017)
criteria provided, single submitterVCV000552608
22.
GRCh37:
Chr11:17515912
GRCh38:
Chr11:17494365
USH1Cnot providedLikely benign
(Oct 1, 2020)
criteria provided, single submitterVCV001141175
23.
GRCh37:
Chr11:17515913-17515915
GRCh38:
Chr11:17494366-17494368
USH1CF552del, L889del, F533delnot provided, Usher syndrome, type 1C, Deafness, autosomal recessive 18
Uncertain significance
(Feb 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000554232
24.
GRCh37:
Chr11:17515914
GRCh38:
Chr11:17494367
USH1Cnot providedLikely benign
(Nov 2, 2020)
criteria provided, single submitterVCV001104700
25.
GRCh37:
Chr11:17515924
GRCh38:
Chr11:17494377
USH1CUsher syndrome, type 1C, Deafness, autosomal recessive 18Uncertain significance
(Jul 31, 2017)
criteria provided, single submitterVCV000552949
26.
GRCh37:
Chr11:17515931
GRCh38:
Chr11:17494384
USH1Cnot providedLikely benign
(May 10, 2019)
criteria provided, single submitterVCV001090163
27.
GRCh37:
Chr11:17515943
GRCh38:
Chr11:17494396
USH1Cnot providedLikely benign
(Sep 5, 2020)
criteria provided, single submitterVCV001080281
28.
GRCh37:
Chr11:17515970
GRCh38:
Chr11:17494423
USH1Cnot specified, not providedBenign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000262733
29.
GRCh37:
Chr11:17516029
GRCh38:
Chr11:17494482
USH1Cnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000675783
30.
GRCh37:
Chr11:17516038
GRCh38:
Chr11:17494491
USH1Cnot providedBenign
(Jul 7, 2018)
criteria provided, single submitterVCV001233407
31.
GRCh37:
Chr11:17516082
GRCh38:
Chr11:17494535
USH1Cnot providedBenign
(Nov 27, 2018)
criteria provided, single submitterVCV001242209
32.
GRCh37:
Chr11:17516183
GRCh38:
Chr11:17494636
USH1Cnot provided, Usher syndrome, type 1C, Deafness, autosomal recessive 18
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000667875
33.
GRCh37:
Chr11:17516852
GRCh38:
Chr11:17495305
USH1Cnot providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001283894
34.
GRCh37:
Chr11:17516936
GRCh38:
Chr11:17495389
USH1Cnot providedBenign
(Dec 23, 2018)
criteria provided, single submitterVCV001249987
35.
GRCh37:
Chr11:17517083
GRCh38:
Chr11:17495536
USH1Cnot providedLikely benign
(Dec 1, 2020)
criteria provided, single submitterVCV001196671
36.
GRCh37:
Chr11:17517104
GRCh38:
Chr11:17495557
USH1Cnot specified, Usher syndrome, type 1C, Deafness, autosomal recessive 18
Likely benign
(Oct 4, 2017)
criteria provided, multiple submitters, no conflictsVCV000178938
37.
GRCh37:
Chr11:17517116
GRCh38:
Chr11:17495569
USH1Cnot providedLikely benign
(Jun 22, 2018)
criteria provided, single submitterVCV000753841
38.
GRCh37:
Chr11:17517136
GRCh38:
Chr11:17495589
USH1CL879Fnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000793785
39.
GRCh37:
Chr11:17517141
GRCh38:
Chr11:17495594
USH1CG877Enot provided, not specifiedConflicting interpretations of pathogenicity
(Dec 6, 2020)
criteria provided, conflicting interpretationsVCV000504697
40.
GRCh37:
Chr11:17517154
GRCh38:
Chr11:17495607
USH1CV873MDeafness, autosomal recessive 18, Usher syndrome, type 1C, not provided,
not specified
Likely benign
(Nov 10, 2020)
criteria provided, multiple submitters, no conflictsVCV000048010
41.
GRCh37:
Chr11:17517155
GRCh38:
Chr11:17495608
USH1Cnot provided, not specifiedLikely benign
(Mar 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000504696
42.
GRCh37:
Chr11:17517160
GRCh38:
Chr11:17495613
USH1CA871TDeafness, autosomal recessive 18, not provided, not specified,
Deafness, autosomal recessive 18, Usher syndrome, type 1C
Conflicting interpretations of pathogenicity
(Jun 1, 2021)
criteria provided, conflicting interpretationsVCV000048009
43.
GRCh37:
Chr11:17517162
GRCh38:
Chr11:17495615
USH1CR870Hnot providedLikely benign
(Nov 12, 2018)
criteria provided, single submitterVCV000764488
44.
GRCh37:
Chr11:17517180
GRCh38:
Chr11:17495633
USH1CR864Qnot provided, not specifiedBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000180086
45.
GRCh37:
Chr11:17517181
GRCh38:
Chr11:17495634
USH1CR864*not provided, Usher syndrome, type 1C, Deafness, autosomal recessive 18
Conflicting interpretations of pathogenicity
(Dec 2, 2019)
criteria provided, conflicting interpretationsVCV000451345
46.
GRCh37:
Chr11:17517186
GRCh38:
Chr11:17495639
USH1CP862Lnot providedLikely benign
(Jan 8, 2019)
criteria provided, single submitterVCV000750680
47.
GRCh37:
Chr11:17517192
GRCh38:
Chr11:17495645
USH1CP860Lnot specifiedUncertain significance
(Feb 4, 2015)
criteria provided, single submitterVCV000229606
48.
GRCh37:
Chr11:17517194
GRCh38:
Chr11:17495647
USH1CS859Rnot specifiedUncertain significance
(Dec 13, 2018)
criteria provided, single submitterVCV000667353
49.
GRCh37:
Chr11:17517203
GRCh38:
Chr11:17495656
USH1Cnot specified, not providedLikely benign
(Sep 20, 2018)
criteria provided, multiple submitters, no conflictsVCV000505367
50.
GRCh37:
Chr11:17517205
GRCh38:
Chr11:17495658
USH1CV856Inot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000730376
51.
GRCh37:
Chr11:17517220
GRCh38:
Chr11:17495673
USH1CS851Anot specified, not providedConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000505000
52.
GRCh37:
Chr11:17517225
GRCh38:
Chr11:17495678
USH1Cnot provided, Usher syndrome, type 1C, Deafness, autosomal recessive 18
Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000550966
53.
GRCh37:
Chr11:17517232
GRCh38:
Chr11:17495685
USH1Cnot specified, not providedBenign/Likely benign
(Oct 20, 2021)
criteria provided, multiple submitters, no conflictsVCV000178560
54.
GRCh37:
Chr11:17517235
GRCh38:
Chr11:17495688
USH1CDeafness, autosomal recessive 18, Usher syndrome, type 1C, not provided,
not specified
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000048008
55.
GRCh37:
Chr11:17517270
GRCh38:
Chr11:17495723
USH1Cnot providedLikely benign
(May 25, 2020)
criteria provided, single submitterVCV001208721
56.
GRCh37:
Chr11:17517382-17517383
GRCh38:
Chr11:17495835-17495836
USH1Cnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000678908
57.
GRCh37:
Chr11:17517407
GRCh38:
Chr11:17495860
USH1Cnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000678883
58.
GRCh37:
Chr11:17518180
GRCh38:
Chr11:17496633
USH1CUsher syndrome, type 1C, Deafness, autosomal recessive 18, not provided
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV001180573
59.
GRCh37:
Chr11:17518296
GRCh38:
Chr11:17496749
USH1Cnot providedLikely benign
(Nov 11, 2019)
criteria provided, single submitterVCV001109694
60.
GRCh37:
Chr11:17518297
GRCh38:
Chr11:17496750
USH1Cnot providedLikely benign
(Mar 24, 2020)
criteria provided, single submitterVCV001154498
61.
GRCh37:
Chr11:17518304
GRCh38:
Chr11:17496757
USH1Cnot provided, Usher syndrome, type 1C, Deafness, autosomal recessive 18
Conflicting interpretations of pathogenicity
(Aug 31, 2019)
criteria provided, conflicting interpretationsVCV000549987
62.
GRCh37:
Chr11:17518310
GRCh38:
Chr11:17496763
USH1CUsher syndrome, type 1CUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880302
63.
GRCh37:
Chr11:17518312
GRCh38:
Chr11:17496765
USH1CD847N, D528N, D547Nnot providedUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV000950695
64.
GRCh37:
Chr11:17518313
GRCh38:
Chr11:17496766
USH1Cnot provided, not specifiedLikely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000178561
65.
GRCh37:
Chr11:17518322-17518323
GRCh38:
Chr11:17496775-17496776
USH1CE844fs, E525fs, E544fsUsher syndrome, type 1C, Deafness, autosomal recessive 18Uncertain significance
(Aug 18, 2017)
criteria provided, single submitterVCV000553391
66.
GRCh37:
Chr11:17518326
GRCh38:
Chr11:17496779
USH1CP523fs, P542fs, P842fsnot providedUncertain significanceno assertion criteria providedVCV001049716
67.
GRCh37:
Chr11:17518331
GRCh38:
Chr11:17496784
USH1Cnot providedLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV001157872
68.
GRCh37:
Chr11:17518352
GRCh38:
Chr11:17496805
USH1Cnot specified, Usher syndrome, type 1C, not provided
Benign/Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000048007
69.
GRCh37:
Chr11:17518361
GRCh38:
Chr11:17496814
USH1CDeafness, autosomal recessive 18Pathogenic
(Feb 26, 2019)
no assertion criteria providedVCV000627489
70.
GRCh37:
Chr11:17518376
GRCh38:
Chr11:17496829
USH1Cnot providedBenign
(Dec 1, 2020)
criteria provided, single submitterVCV001169464
71.
GRCh37:
Chr11:17518401
GRCh38:
Chr11:17496854
USH1Cnot providedLikely benign
(Sep 8, 2020)
criteria provided, single submitterVCV001213281
72.
GRCh37:
Chr11:17518525
GRCh38:
Chr11:17496978
USH1Cnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000678909
73.
GRCh37:
Chr11:17519535
GRCh38:
Chr11:17497988
USH1Cnot providedLikely benign
(Jan 25, 2019)
criteria provided, single submitterVCV001195262
74.
GRCh37:
Chr11:17519697
GRCh38:
Chr11:17498150
USH1CDeafness, autosomal recessive 18, Usher syndrome, type 1C, not provided,
not specified
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000048006
75.
GRCh37:
Chr11:17519703
GRCh38:
Chr11:17498156
USH1CUsher syndrome, type 1CUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000880303
76.
GRCh37:
Chr11:17519707
GRCh38:
Chr11:17498160
USH1CUsher syndrome, type 1C, Deafness, autosomal recessive 18Likely pathogenic
(Feb 22, 2018)
criteria provided, single submitterVCV000556802
77.
GRCh37:
Chr11:17519708
GRCh38:
Chr11:17498161
USH1CUsher syndrome, type 1C, Deafness, autosomal recessive 18Likely pathogenic
(Apr 13, 2018)
criteria provided, single submitterVCV000557880
78.
GRCh37:
Chr11:17519708
GRCh38:
Chr11:17498161
USH1CUsher syndrome, type 1C, Deafness, autosomal recessive 18Uncertain significance
(Nov 7, 2017)
criteria provided, single submitterVCV000554676
79.
GRCh37:
Chr11:17519711
GRCh38:
Chr11:17498164
USH1CG530R, G830R, G511Rnot specified, not providedBenign/Likely benign
(Mar 19, 2021)
criteria provided, multiple submitters, no conflictsVCV000048005
80.
GRCh37:
Chr11:17519712
GRCh38:
Chr11:17498165
USH1Cnot provided, Usher syndrome, type 1C, Deafness, autosomal recessive 18,
Usher syndrome, type 1C
Conflicting interpretations of pathogenicity
(Nov 10, 2020)
criteria provided, conflicting interpretationsVCV000557049
81.
GRCh37:
Chr11:17519713
GRCh38:
Chr11:17498166
USH1CG510D, G529D, G829Dnot providedUncertain significance
(Jan 31, 2020)
criteria provided, single submitterVCV001019112
82.
GRCh37:
Chr11:17519714
GRCh38:
Chr11:17498167
USH1CG510S, G529S, G829Snot providedUncertain significance
(Mar 11, 2020)
criteria provided, single submitterVCV001006550
83.
GRCh37:
Chr11:17519741
GRCh38:
Chr11:17498194
USH1CA520T, A820T, A501Tnot specified, Deafness, autosomal recessive 18, Usher syndrome, type 1C
Uncertain significance
(Sep 28, 2017)
criteria provided, multiple submitters, no conflictsVCV000048004
84.
GRCh37:
Chr11:17519742
GRCh38:
Chr11:17498195
USH1CE519D, E819D, E500DDeafness, autosomal recessive 18, Usher syndrome, type 1C, not provided,
not specified
Benign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflictsVCV000048003
85.
GRCh37:
Chr11:17519748-17519768
GRCh38:
Chr11:17498201-17498221
USH1CUsher syndrome, type 1C, Deafness, autosomal recessive 18Uncertain significance
(Nov 15, 2017)
criteria provided, single submitterVCV000555054
86.
GRCh37:
Chr11:17519756
GRCh38:
Chr11:17498209
USH1Cnot specified, not providedConflicting interpretations of pathogenicity
(Oct 8, 2020)
criteria provided, conflicting interpretationsVCV000281628
87.
GRCh37:
Chr11:17519757
GRCh38:
Chr11:17498210
USH1Cnot providedLikely benign
(Dec 4, 2018)
criteria provided, single submitterVCV000798490
88.
GRCh37:
Chr11:17519758
GRCh38:
Chr11:17498211
USH1CT514N, T814N, T495NUsher syndrome, type 1C, Deafness, autosomal recessive 18, Usher syndrome, type 1C,
not specified
Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000048002
89.
GRCh37:
Chr11:17519762
GRCh38:
Chr11:17498215
USH1CY494D, Y513D, Y813DUsher syndrome, type 1CUncertain significance
(Jul 21, 2017)
criteria provided, single submitterVCV000877521
90.
GRCh37:
Chr11:17519763
GRCh38:
Chr11:17498216
USH1Cnot providedLikely benign
(Jan 10, 2020)
criteria provided, single submitterVCV001157972
91.
GRCh37:
Chr11:17519772
GRCh38:
Chr11:17498225
USH1Cnot providedLikely benign
(Jul 23, 2020)
criteria provided, single submitterVCV001143904
92.
GRCh37:
Chr11:17519780
GRCh38:
Chr11:17498233
USH1CG507S, G807S, G488Snot provided, not specified, Usher syndrome, type 1C
Uncertain significance
(Jun 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000178562
93.
GRCh37:
Chr11:17519781
GRCh38:
Chr11:17498234
USH1CN506K, N806K, N487Knot specified, Usher syndrome, type 1C, Deafness, autosomal recessive 18,
not provided
Uncertain significance
(Aug 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000229603
94.
GRCh37:
Chr11:17519781
GRCh38:
Chr11:17498234
USH1Cnot specified, Deafness, autosomal recessive 18, Usher syndrome, type 1C,
not provided
Likely benign
(Sep 5, 2019)
criteria provided, multiple submitters, no conflictsVCV000048001
95.
GRCh37:
Chr11:17519789
GRCh38:
Chr11:17498242
USH1CA504T, A804T, A485Tnot specified, not provided, Usher syndrome, type 1C
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000178563
96.
GRCh37:
Chr11:17519798
GRCh38:
Chr11:17498251
USH1CE501K, E801K, E482Knot providedUncertain significance
(Dec 12, 2019)
criteria provided, single submitterVCV000969523
97.
GRCh37:
Chr11:17519798
GRCh38:
Chr11:17498251
USH1CE801*, E482*, E501*not providedPathogenic
(Nov 10, 2019)
criteria provided, single submitterVCV000958803
98.
GRCh37:
Chr11:17519799
GRCh38:
Chr11:17498252
USH1Cnot providedLikely benign
(Nov 3, 2020)
criteria provided, single submitterVCV000799609
99.
GRCh37:
Chr11:17519805
GRCh38:
Chr11:17498258
USH1Cnot providedLikely benign
(Jul 1, 2020)
criteria provided, single submitterVCV001160635
100.
GRCh37:
Chr11:17519808
GRCh38:
Chr11:17498261
USH1Cnot providedUncertain significance
(Feb 14, 2015)
criteria provided, single submitterVCV000194957
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