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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:
Chr11:17568611
GRCh38:
Chr11:17547064
OTOGnot providedBenign
(Dec 24, 2018)
criteria provided, single submitterVCV001222674
4.
GRCh37:
Chr11:17568906-17568907
GRCh38:
Chr11:17547359-17547360
OTOGnot specifiednot provided
(Jun 16, 2015)
no assertion providedVCV000228318
5.
GRCh37:
Chr11:17568920
GRCh38:
Chr11:17547373
OTOGM1Vnot providedUncertain significance
(Mar 15, 2019)
criteria provided, single submitterVCV001197895
6.
GRCh37:
Chr11:17568932
GRCh38:
Chr11:17547385
OTOGA5Tnot providedUncertain significance
(Oct 18, 2021)
criteria provided, single submitterVCV001300734
7.
GRCh37:
Chr11:17568933
GRCh38:
Chr11:17547386
OTOGA5Vnot specifiedUncertain significance
(Jun 7, 2016)
criteria provided, single submitterVCV000505067
8.
GRCh37:
Chr11:17568935
GRCh38:
Chr11:17547388
OTOGS6Pnot specifiedLikely benign
(Nov 28, 2018)
criteria provided, single submitterVCV000666740
9.
GRCh37:
Chr11:17568940
GRCh38:
Chr11:17547393
OTOGnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000504776
10.
GRCh37:
Chr11:17568995
GRCh38:
Chr11:17547448
OTOGnot specifiedLikely benign
(Feb 22, 2018)
criteria provided, single submitterVCV000515578
11.
GRCh37:
Chr11:17569012
GRCh38:
Chr11:17547465
OTOGnot providedUncertain significance
(May 13, 2021)
criteria provided, single submitterVCV001208266
12.
GRCh37:
Chr11:17569013
GRCh38:
Chr11:17547466
OTOGG32S, A32Tnot providedUncertain significance
(Mar 27, 2017)
criteria provided, single submitterVCV000501008
13.
GRCh37:
Chr11:17569050
GRCh38:
Chr11:17547503
OTOGR44Qnot provided, not specifiedBenign
(Aug 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000226863
14.
GRCh37:
Chr11:17569088
GRCh38:
Chr11:17547541
OTOGA57Snot specifiedLikely benign
(Sep 14, 2017)
criteria provided, single submitterVCV000506139
15.
GRCh37:
Chr11:17569089
GRCh38:
Chr11:17547542
OTOGA57Vnot specifiedUncertain significance
(Jun 28, 2019)
criteria provided, single submitterVCV000930090
16.
GRCh37:
Chr11:17569392
GRCh38:
Chr11:17547845
OTOGnot providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001233627
17.
GRCh37:
Chr11:17569485
GRCh38:
Chr11:17547938
OTOGV36Inot providedBenign
(Jan 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000805106
18.
GRCh37:
Chr11:17569523
GRCh38:
Chr11:17547976
OTOGnot providedBenign
(Jan 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000805107
19.
GRCh37:
Chr11:17569527
GRCh38:
Chr11:17547980
OTOGQ50Enot specified, not providedBenign
(Feb 11, 2020)
criteria provided, multiple submitters, no conflictsVCV001181149
20.
GRCh37:
Chr11:17569716
GRCh38:
Chr11:17548169
OTOGA58V, A70Vnot providedUncertain significance
(Mar 17, 2020)
criteria provided, single submitterVCV001215900
21.
GRCh37:
Chr11:17569885
GRCh38:
Chr11:17548338
OTOGnot providedBenign
(Dec 12, 2018)
criteria provided, single submitterVCV001262081
22.
GRCh37:
Chr11:17569966-17569979
GRCh38:
Chr11:17548419-17548432
OTOGnot providedLikely benign
(Feb 24, 2020)
criteria provided, single submitterVCV001216587
23.
GRCh37:
Chr11:17569966-17569981
GRCh38:
Chr11:17548419-17548434
OTOGnot providedLikely benign
(Sep 15, 2019)
criteria provided, single submitterVCV001213434
24.
GRCh37:
Chr11:17569966-17569984
GRCh38:
Chr11:17548419-17548437
OTOGnot providedLikely benign
(Sep 9, 2019)
criteria provided, single submitterVCV001211220
25.
GRCh37:
Chr11:17569966-17569976
GRCh38:
Chr11:17548419-17548429
OTOGnot providedLikely benign
(Jan 29, 2020)
criteria provided, single submitterVCV001203281
26.
GRCh37:
Chr11:17569966-17569985
GRCh38:
Chr11:17548419-17548438
OTOGnot providedBenign
(Aug 21, 2019)
criteria provided, single submitterVCV001175552
27.
GRCh37:
Chr11:17570003
GRCh38:
Chr11:17548456
OTOGnot providedLikely benign
(Feb 18, 2019)
criteria provided, single submitterVCV001223383
28.
GRCh37:
Chr11:17573329
GRCh38:
Chr11:17551782
OTOGnot providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001273330
29.
GRCh37:
Chr11:17573567
GRCh38:
Chr11:17552020
OTOGnot specified, not providedBenign
(May 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000226872
30.
GRCh37:
Chr11:17573592
GRCh38:
Chr11:17552045
OTOGR100W, R88Wnot specifiedUncertain significance
(Oct 8, 2019)
criteria provided, single submitterVCV000930159
31.
GRCh37:
Chr11:17573614
GRCh38:
Chr11:17552067
OTOGA95G, A107Gnot specifiedUncertain significance
(Feb 6, 2019)
criteria provided, single submitterVCV000667299
32.
GRCh37:
Chr11:17573626
GRCh38:
Chr11:17552079
OTOGnot specified, not providedUncertain significance
(Sep 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000432317
33.
GRCh37:
Chr11:17573632
GRCh38:
Chr11:17552085
OTOGnot provided, not specifiedBenign
(Jul 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000226881
34.
GRCh37:
Chr11:17573637
GRCh38:
Chr11:17552090
OTOGnot specifiedLikely benign
(Jun 8, 2015)
criteria provided, single submitterVCV000227774
35.
GRCh37:
Chr11:17573749
GRCh38:
Chr11:17552202
OTOGnot providedBenign
(Jan 13, 2019)
criteria provided, single submitterVCV001250160
36.
GRCh37:
Chr11:17573787
GRCh38:
Chr11:17552240
OTOGnot providedLikely benign
(Jan 13, 2019)
criteria provided, single submitterVCV001194971
37.
GRCh37:
Chr11:17574372
GRCh38:
Chr11:17552825
OTOGnot providedBenign
(Jan 13, 2019)
criteria provided, single submitterVCV001259881
38.
GRCh37:
Chr11:17574588
GRCh38:
Chr11:17553041
OTOGnot providedBenign
(Jun 24, 2018)
criteria provided, single submitterVCV001237547
39.
GRCh37:
Chr11:17574667
GRCh38:
Chr11:17553120
OTOGY110*, Y98*Deafness, autosomal recessive 18bPathogenic
(Oct 2, 2021)
criteria provided, single submitterVCV000496812
40.
GRCh37:
Chr11:17574684
GRCh38:
Chr11:17553137
OTOGN116S, N104Snot specifiedBenign
(Feb 1, 2019)
criteria provided, single submitterVCV000666633
41.
GRCh37:
Chr11:17574708
GRCh38:
Chr11:17553161
OTOGA124G, A112Gnot provided, Deafness, autosomal recessive 18b, not specified
Conflicting interpretations of pathogenicity
(May 13, 2021)
criteria provided, conflicting interpretationsVCV000229089
42.
GRCh37:
Chr11:17574738
GRCh38:
Chr11:17553191
OTOGT134I, T122Inot providedUncertain significance
(Nov 27, 2018)
criteria provided, single submitterVCV000805108
43.
GRCh37:
Chr11:17574744
GRCh38:
Chr11:17553197
OTOGP136L, P124Lnot specifiedLikely benign
(Sep 21, 2017)
criteria provided, single submitterVCV000517609
44.
GRCh37:
Chr11:17574752
GRCh38:
Chr11:17553205
OTOGQ127*, Q139*Rare genetic deafnessPathogenic
(Dec 23, 2019)
criteria provided, single submitterVCV000930109
45.
GRCh37:
Chr11:17574758
GRCh38:
Chr11:17553211
OTOGV141M, V129MMeniere disease, Deafness, autosomal recessive 18b, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 8, 2020)
criteria provided, conflicting interpretationsVCV000229094
46.
GRCh37:
Chr11:17574765
GRCh38:
Chr11:17553218
OTOGnot provided, not specifiedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000226893
47.
GRCh37:
Chr11:17574921
GRCh38:
Chr11:17553374
OTOGA144V, A132Vnot specifiedLikely benign
(Aug 18, 2015)
criteria provided, single submitterVCV000227781
48.
GRCh37:
Chr11:17574923
GRCh38:
Chr11:17553376
OTOGG145S, G133SHearing impairment, not provided, not specified,
Deafness, autosomal recessive 18b
Uncertain significance
(Apr 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000417886
49.
GRCh37:
Chr11:17574947
GRCh38:
Chr11:17553400
OTOGR153W, R141Wnot specified, not providedUncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflictsVCV000930162
50.
GRCh37:
Chr11:17574948
GRCh38:
Chr11:17553401
OTOGR141Q, R153Qnot specifiedUncertain significance
(Nov 10, 2020)
criteria provided, single submitterVCV001120071
51.
GRCh37:
Chr11:17574952
GRCh38:
Chr11:17553405
OTOGnot providedLikely benign
(Nov 18, 2020)
criteria provided, single submitterVCV001207691
52.
GRCh37:
Chr11:17574954
GRCh38:
Chr11:17553407
OTOGQ145fs, Q157fsnot providedPathogenic
(Sep 13, 2021)
criteria provided, single submitterVCV000817689
53.
GRCh37:
Chr11:17574967
GRCh38:
Chr11:17553420
OTOGnot providedLikely benign
(Dec 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000756460
54.
GRCh37:
Chr11:17574976
GRCh38:
Chr11:17553429
OTOGnot providedUncertain significance
(Nov 28, 2017)
criteria provided, single submitterVCV000595057
55.
GRCh37:
Chr11:17574985
GRCh38:
Chr11:17553438
OTOGnot specifiedLikely benign
(Sep 4, 2017)
criteria provided, single submitterVCV000505189
56.
GRCh37:
Chr11:17575020
GRCh38:
Chr11:17553473
OTOGT177N, T165Nnot specifiedUncertain significance
(Jul 25, 2017)
criteria provided, single submitterVCV000517465
57.
GRCh37:
Chr11:17575024
GRCh38:
Chr11:17553477
OTOGV167fsRare genetic deafness, not provided, Deafness, autosomal recessive 18b
Likely pathogenic
(Nov 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000228284
58.
GRCh37:
Chr11:17575042
GRCh38:
Chr11:17553495
OTOGnot providedLikely benign
(Feb 8, 2021)
criteria provided, single submitterVCV001185111
59.
GRCh37:
Chr11:17575053
GRCh38:
Chr11:17553506
OTOGS188T, S176Tnot specifiedLikely benign
(Aug 12, 2015)
criteria provided, single submitterVCV000227787
60.
GRCh37:
Chr11:17575060
GRCh38:
Chr11:17553513
OTOGnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000504777
61.
GRCh37:
Chr11:17575074
GRCh38:
Chr11:17553527
OTOGnot specifiedLikely benign
(Jan 12, 2017)
criteria provided, single submitterVCV000517151
62.
GRCh37:
Chr11:17575239
GRCh38:
Chr11:17553692
OTOGnot providedLikely benign
(Apr 9, 2019)
criteria provided, single submitterVCV001213497
63.
GRCh37:
Chr11:17577085
GRCh38:
Chr11:17555538
OTOGnot providedBenign
(Dec 24, 2018)
criteria provided, single submitterVCV001255018
64.
GRCh37:
Chr11:17577193
GRCh38:
Chr11:17555646
OTOGnot providedLikely benign
(Feb 14, 2019)
criteria provided, single submitterVCV001190392
65.
GRCh37:
Chr11:17577223
GRCh38:
Chr11:17555676
OTOGnot providedBenign
(Dec 12, 2018)
criteria provided, single submitterVCV001288918
66.
GRCh37:
Chr11:17577238
GRCh38:
Chr11:17555691
OTOGnot providedBenign
(Feb 24, 2019)
criteria provided, single submitterVCV001235992
67.
GRCh37:
Chr11:17577305
GRCh38:
Chr11:17555758
OTOGnot providedLikely benign
(May 9, 2019)
criteria provided, single submitterVCV001190154
68.
GRCh37:
Chr11:17577335
GRCh38:
Chr11:17555788
OTOGD184N, D196Nnot providedUncertain significanceno assertion criteria providedVCV001297667
69.
GRCh37:
Chr11:17577376
GRCh38:
Chr11:17555829
OTOGnot providedLikely benign
(Jan 6, 2021)
criteria provided, single submitterVCV000680375
70.
GRCh37:
Chr11:17577384-17577386
GRCh38:
Chr11:17555837-17555839
OTOGF214del, F202delnot provided, not specified, Deafness, autosomal recessive 18b
Uncertain significance
(Feb 17, 2021)
criteria provided, multiple submitters, no conflictsVCV000596372
71.
GRCh37:
Chr11:17577424
GRCh38:
Chr11:17555877
OTOGE225D, E213Dnot specified, not providedBenign/Likely benign
(Jan 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000227791
72.
GRCh37:
Chr11:17577467
GRCh38:
Chr11:17555920
OTOGnot providedLikely benign
(Aug 6, 2018)
criteria provided, single submitterVCV001207537
73.
GRCh37:
Chr11:17577654
GRCh38:
Chr11:17556107
OTOGnot providedLikely benign
(May 9, 2019)
criteria provided, single submitterVCV001207117
74.
GRCh37:
Chr11:17578693
GRCh38:
Chr11:17557146
OTOGA242T, A230Tnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000226906
75.
GRCh37:
Chr11:17578769
GRCh38:
Chr11:17557222
OTOGS267L, S255Lnot specifiedUncertain significance
(Jan 16, 2019)
criteria provided, single submitterVCV000667298
76.
GRCh37:
Chr11:17578774
GRCh38:
Chr11:17557227
OTOGV269I, V257IMeniere disease, not provided, not specified
Conflicting interpretations of pathogenicity
(Jan 1, 2020)
criteria provided, conflicting interpretationsVCV000226914
77.
GRCh37:
Chr11:17578788
GRCh38:
Chr11:17557241
OTOGM273I, M261Inot specifiedLikely benign
(Sep 22, 2017)
criteria provided, single submitterVCV000504838
78.
GRCh37:
Chr11:17578848
GRCh38:
Chr11:17557301
OTOGnot specified, not providedBenign/Likely benign
(Jun 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000226924
79.
GRCh37:
Chr11:17579437
GRCh38:
Chr11:17557890
OTOGnot providedLikely benign
(Apr 20, 2019)
criteria provided, single submitterVCV001193719
80.
GRCh37:
Chr11:17579651
GRCh38:
Chr11:17558104
OTOGnot providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV001219973
81.
GRCh37:
Chr11:17579745
GRCh38:
Chr11:17558198
OTOGnot specified, not providedLikely benign
(Feb 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000504778
82.
GRCh37:
Chr11:17579748
GRCh38:
Chr11:17558201
OTOGD294E, D306EHearing impairmentUncertain significance
(Apr 12, 2021)
criteria provided, single submitterVCV001065102
83.
GRCh37:
Chr11:17579749
GRCh38:
Chr11:17558202
OTOGV307M, V295Mnot providedUncertain significance
(May 11, 2020)
criteria provided, single submitterVCV000450925
84.
GRCh37:
Chr11:17579765
GRCh38:
Chr11:17558218
OTOGH312R, H300RDeafness, autosomal recessive 18b, not provided, not specified
Likely benign
(Apr 29, 2021)
criteria provided, multiple submitters, no conflictsVCV000229109
85.
GRCh37:
Chr11:17579782
GRCh38:
Chr11:17558235
OTOGA318T, A306TDeafness, autosomal recessive 18bUncertain significance
(Oct 19, 2015)
no assertion criteria providedVCV000417896
86.
GRCh37:
Chr11:17579783
GRCh38:
Chr11:17558236
OTOGA318D, A306Dnot specifiedBenign
(Aug 3, 2017)
criteria provided, multiple submitters, no conflictsVCV000226925
87.
GRCh37:
Chr11:17579786
GRCh38:
Chr11:17558239
OTOGP307L, P319Lnot providedUncertain significance
(Sep 25, 2020)
criteria provided, single submitterVCV001196554
88.
GRCh37:
Chr11:17579803
GRCh38:
Chr11:17558256
OTOGP325T, P313Tnot specified, not providedConflicting interpretations of pathogenicity
(Jul 31, 2020)
criteria provided, conflicting interpretationsVCV000500840
89.
GRCh37:
Chr11:17579804
GRCh38:
Chr11:17558257
OTOGP325L, P313Lnot specified, not providedUncertain significance
(Aug 7, 2019)
criteria provided, multiple submitters, no conflictsVCV000229110
90.
GRCh37:
Chr11:17579832
GRCh38:
Chr11:17558285
OTOGnot providedLikely benign
(Nov 30, 2020)
criteria provided, single submitterVCV001189209
91.
GRCh37:
Chr11:17579862
GRCh38:
Chr11:17558315
OTOGQ332H, Q344HDeafness, autosomal recessive 18bUncertain significance
(Jul 8, 2020)
criteria provided, single submitterVCV000979184
92.
GRCh37:
Chr11:17579871
GRCh38:
Chr11:17558324
OTOGnot specified, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000226858
93.
GRCh37:
Chr11:17579940
GRCh38:
Chr11:17558393
OTOGnot providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001226002
94.
GRCh37:
Chr11:17580050
GRCh38:
Chr11:17558503
OTOGnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000682654
95.
GRCh37:
Chr11:17580093
GRCh38:
Chr11:17558546
OTOGY347*, Y335*not providedLikely pathogenic
(Dec 8, 2017)
criteria provided, single submitterVCV000489156
96.
GRCh37:
Chr11:17580112
GRCh38:
Chr11:17558565
OTOGnot specifiedLikely benign
(Feb 25, 2016)
criteria provided, single submitterVCV000227760
97.
GRCh37:
Chr11:17580130
GRCh38:
Chr11:17558583
OTOGA360T, A348Tnot provided, not specifiedConflicting interpretations of pathogenicity
(Sep 12, 2018)
criteria provided, conflicting interpretationsVCV000227761
98.
GRCh37:
Chr11:17580138
GRCh38:
Chr11:17558591
OTOGnot provided, not specifiedBenign/Likely benign
(Jun 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000514533
99.
GRCh37:
Chr11:17580139
GRCh38:
Chr11:17558592
OTOGA351T, A363Tnot specifiedBenign
(Apr 12, 2018)
criteria provided, single submitterVCV000666632
100.
GRCh37:
Chr11:17580147
GRCh38:
Chr11:17558600
OTOGnot specified, not providedBenign
(Mar 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000226859
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