10083[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1445151.	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 GRCh37: Chr11:446754-18926289 GRCh38: Chr11:446754-18904742	A-GAMMA3'E, ABCC8, ADM, ADM-DT, AKIP1, AMPD3, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, BGLT3, BMAL1, 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, DENND2B-AS1, DENND5A, DKK3, DNHD1, DRD4, DUSP8, EIF3F, EIF4G2, EPS8L2, FAM99A, FAM99B, FAR1, FHIP1B, GALNT18, GATD1, GATD1-DT, 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, LINC02752, LMNTD2, LMNTD2-AS1, LMO1, LOC101927708, LOC101928008, LOC101928053, LOC105274310, LOC105369149, LOC105376526, 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, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC124418422, LOC124418423, LOC124418426, LOC124421482, LOC124421483, LOC124421484, LOC124421485, LOC124421486, LOC124421487, LOC124421488, LOC124421489, LOC124421490, LOC124421491, LOC124421492, LOC124421493, LOC124421494, LOC124421495, LOC124421496, LOC124421497, LOC124421498, LOC124421499, LOC124421500, LOC124421501, LOC124421502, LOC124421503, LOC124902806, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC126861119, LOC126861120, LOC126861121, LOC126861122, LOC126861123, LOC126861124, LOC126861125, LOC126861126, LOC126861127, LOC126861128, LOC126861129, LOC126861130, LOC126861131, LOC126861132, LOC126861133, LOC126861134, LOC126861135, LOC126861136, LOC126861137, LOC126861138, LOC126861139, LOC126861140, LOC126861141, LOC126861142, LOC126861143, LOC126861144, LOC126861145, LOC126861146, LOC126861147, LOC126861148, LOC126861149, LOC126861150, LOC126861151, LOC126861152, LOC126861153, LOC126861154, LOC128772342, LOC128772343, LOC128772344, LOC128772345, LOC128772346, LOC143666, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MICAL2, MICALCL, MIR210, MIR210HG, MIR302E, MIR3159, MIR4298, MIR4299, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6073, MIR6124, MIR6744, MIR675, MIR7847, MIR8070, MISFA, 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, OR52P1, 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, PRADX, 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, SERGEF, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA23, SNORA3A, SNORA3B, SNORA52, SNORA54, SNORD131, SNORD147, SNORD14A, SNORD14B, SNORD97, SOX6, SPON1, SPTY2D1, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, SYT9-AS1, 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		See cases	Pathogenic (Apr 30, 2010)	no assertion criteria provided
Select item 8785002.	NM_153676.4(USH1C):c.*427T>C GRCh37: Chr11:17515452 GRCh38: Chr11:17493905	USH1C		Usher syndrome type 1C	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 3037933.	NM_153676.4(USH1C):c.419_420insAACA GRCh37: Chr11:17515459-17515460 GRCh38: Chr11:17493912-17493913	USH1C		Retinitis pigmentosa-deafness syndrome, Nonsyndromic Hearing Loss, Recessive	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3037944.	NM_153676.4(USH1C):c.*405C>G GRCh37: Chr11:17515474 GRCh38: Chr11:17493927	USH1C		Usher syndrome type 1C	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 3037955.	NM_153676.4(USH1C):c.*376A>C GRCh37: Chr11:17515503 GRCh38: Chr11:17493956	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8790776.	NM_153676.4(USH1C):c.*241C>G GRCh37: Chr11:17515638 GRCh38: Chr11:17494091	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3037967.	NM_153676.4(USH1C):c.*211A>G GRCh37: Chr11:17515668 GRCh38: Chr11:17494121	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3037978.	NM_153676.4(USH1C):c.*186C>T GRCh37: Chr11:17515693 GRCh38: Chr11:17494146	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3037989.	NM_153676.4(USH1C):c.*140C>T GRCh37: Chr11:17515739 GRCh38: Chr11:17494192	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87907810.	NM_153676.4(USH1C):c.*131G>C GRCh37: Chr11:17515748 GRCh38: Chr11:17494201	USH1C		Usher syndrome type 1C	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87907911.	NM_153676.4(USH1C):c.*117C>G GRCh37: Chr11:17515762 GRCh38: Chr11:17494215	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87908012.	NM_153676.4(USH1C):c.*110C>G GRCh37: Chr11:17515769 GRCh38: Chr11:17494222	USH1C		Usher syndrome type 1C	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 30379913.	NM_153676.4(USH1C):c.*95C>T GRCh37: Chr11:17515784 GRCh38: Chr11:17494237	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 26273014.	NM_153676.4(USH1C):c.*46T>C GRCh37: Chr11:17515833 GRCh38: Chr11:17494286	USH1C		not specified, Usher syndrome type 1C, not provided, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30380015.	NM_153676.4(USH1C):c.*42C>T GRCh37: Chr11:17515837 GRCh38: Chr11:17494290	USH1C		not provided, Usher syndrome type 1C	Likely benign (Aug 7, 2018)	criteria provided, multiple submitters, no conflicts
Select item 118821816.	NM_153676.4(USH1C):c.*1G>C GRCh37: Chr11:17515878 GRCh38: Chr11:17494331	USH1C		not provided	Likely benign (Oct 18, 2020)	criteria provided, single submitter
Select item 170639717.	NM_153676.4(USH1C):c.2696G>A (p.Arg899His) GRCh37: Chr11:17515883 GRCh38: Chr11:17494336	USH1C	R899H	not provided	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 73476318.	NM_153676.4(USH1C):c.2696G>T (p.Arg899Leu) GRCh37: Chr11:17515883 GRCh38: Chr11:17494336	USH1C	R899L	not provided	Likely benign (Mar 14, 2020)	criteria provided, single submitter
Select item 55508419.	NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) GRCh37: Chr11:17515883-17515884 GRCh38: Chr11:17494336-17494337	USH1C	R899fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Nov 16, 2017)	criteria provided, single submitter
Select item 61847220.	NM_153676.4(USH1C):c.2695C>G (p.Arg899Gly) GRCh37: Chr11:17515884 GRCh38: Chr11:17494337	USH1C	R899G	not provided	Uncertain significance (May 15, 2018)	criteria provided, single submitter
Select item 55260821.	NM_153676.4(USH1C):c.2681del (p.Gly894fs) GRCh37: Chr11:17515898 GRCh38: Chr11:17494351	USH1C	G894fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Jun 22, 2017)	criteria provided, single submitter
Select item 114117522.	NM_153676.4(USH1C):c.2667G>A (p.Leu889=) GRCh37: Chr11:17515912 GRCh38: Chr11:17494365	USH1C		not provided	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 55423223.	NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) GRCh37: Chr11:17515913-17515915 GRCh38: Chr11:17494366-17494368	USH1C	F552del, L889del, F533del	not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110470024.	NM_153676.4(USH1C):c.2665C>T (p.Leu889=) GRCh37: Chr11:17515914 GRCh38: Chr11:17494367	USH1C		not provided	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 205931925.	NM_153676.4(USH1C):c.2657A>G (p.Asp886Gly) GRCh37: Chr11:17515922 GRCh38: Chr11:17494375	USH1C	T550A, D886G, T531A	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 55294926.	NM_153676.4(USH1C):c.2656-1G>A GRCh37: Chr11:17515924 GRCh38: Chr11:17494377	USH1C		Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Uncertain significance (Jul 31, 2017)	criteria provided, single submitter
Select item 140937927.	NM_153676.4(USH1C):c.2656-3C>T GRCh37: Chr11:17515926 GRCh38: Chr11:17494379	USH1C		not provided	Uncertain significance (Mar 18, 2021)	criteria provided, single submitter
Select item 203193228.	NM_153676.4(USH1C):c.2656-6C>G GRCh37: Chr11:17515929 GRCh38: Chr11:17494382	USH1C		not provided	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 109016329.	NM_153676.4(USH1C):c.2656-8C>T GRCh37: Chr11:17515931 GRCh38: Chr11:17494384	USH1C		not provided	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 241458330.	NM_153676.4(USH1C):c.2656-11C>T GRCh37: Chr11:17515934 GRCh38: Chr11:17494387	USH1C		not provided	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 193281531.	NM_153676.4(USH1C):c.2656-15T>C GRCh37: Chr11:17515938 GRCh38: Chr11:17494391	USH1C		not provided	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 203605732.	NM_153676.4(USH1C):c.2656-18G>A GRCh37: Chr11:17515941 GRCh38: Chr11:17494394	USH1C		not provided	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 108028133.	NM_153676.4(USH1C):c.2656-20C>T GRCh37: Chr11:17515943 GRCh38: Chr11:17494396	USH1C		not provided	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 26273334.	NM_153676.4(USH1C):c.2656-47C>T GRCh37: Chr11:17515970 GRCh38: Chr11:17494423	USH1C		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67578335.	NM_153676.4(USH1C):c.2656-106T>C GRCh37: Chr11:17516029 GRCh38: Chr11:17494482	USH1C		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 123340736.	NM_153676.4(USH1C):c.2656-115G>A GRCh37: Chr11:17516038 GRCh38: Chr11:17494491	USH1C		not provided	Benign (Jul 7, 2018)	criteria provided, single submitter
Select item 124220937.	NM_153676.4(USH1C):c.2656-159del GRCh37: Chr11:17516082 GRCh38: Chr11:17494535	USH1C		not provided	Benign (Nov 27, 2018)	criteria provided, single submitter
Select item 66787538.	NM_153676.4(USH1C):c.2656-260A>G GRCh37: Chr11:17516183 GRCh38: Chr11:17494636	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128389439.	NM_153676.4(USH1C):c.2655+264T>C GRCh37: Chr11:17516852 GRCh38: Chr11:17495305	USH1C		not provided	Benign (Nov 10, 2018)	criteria provided, single submitter
Select item 124998740.	NM_153676.4(USH1C):c.2655+180C>A GRCh37: Chr11:17516936 GRCh38: Chr11:17495389	USH1C		not provided	Benign (Dec 23, 2018)	criteria provided, single submitter
Select item 119667141.	NM_153676.4(USH1C):c.2655+33T>A GRCh37: Chr11:17517083 GRCh38: Chr11:17495536	USH1C		not provided	Likely benign (Dec 1, 2020)	criteria provided, single submitter
Select item 17893842.	NM_153676.4(USH1C):c.2655+12G>A GRCh37: Chr11:17517104 GRCh38: Chr11:17495557	USH1C		not specified, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Likely benign (Oct 4, 2017)	criteria provided, multiple submitters, no conflicts
Select item 75384143.	NM_153676.4(USH1C):c.2655G>A (p.Thr885=) GRCh37: Chr11:17517116 GRCh38: Chr11:17495569	USH1C		not provided	Likely benign (Jun 22, 2018)	criteria provided, single submitter
Select item 79378544.	NM_153676.4(USH1C):c.2635C>T (p.Leu879Phe) GRCh37: Chr11:17517136 GRCh38: Chr11:17495589	USH1C	L879F	not provided	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 50469745.	NM_153676.4(USH1C):c.2630G>A (p.Gly877Glu) GRCh37: Chr11:17517141 GRCh38: Chr11:17495594	USH1C	G877E	not specified, not provided	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 4801046.	NM_153676.4(USH1C):c.2617G>A (p.Val873Met) GRCh37: Chr11:17517154 GRCh38: Chr11:17495607	USH1C	V873M	not provided, not specified, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Likely benign (Jan 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50469647.	NM_153676.4(USH1C):c.2616C>T (p.Ala872=) GRCh37: Chr11:17517155 GRCh38: Chr11:17495608	USH1C		not provided, not specified	Likely benign (Mar 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4800948.	NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) GRCh37: Chr11:17517160 GRCh38: Chr11:17495613	USH1C	A871T	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 76448849.	NM_153676.4(USH1C):c.2609G>A (p.Arg870His) GRCh37: Chr11:17517162 GRCh38: Chr11:17495615	USH1C	R870H	not provided	Likely benign (Nov 19, 2020)	criteria provided, single submitter
Select item 18008650.	NM_153676.4(USH1C):c.2591G>A (p.Arg864Gln) GRCh37: Chr11:17517180 GRCh38: Chr11:17495633	USH1C	R864Q	not specified, not provided	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 45134551.	NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) GRCh37: Chr11:17517181 GRCh38: Chr11:17495634	USH1C	R864*	Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, not provided	Conflicting interpretations of pathogenicity (Dec 2, 2019)	criteria provided, conflicting interpretations
Select item 75068052.	NM_153676.4(USH1C):c.2585C>T (p.Pro862Leu) GRCh37: Chr11:17517186 GRCh38: Chr11:17495639	USH1C	P862L	not provided	Likely benign (Jan 8, 2019)	criteria provided, single submitter
Select item 22960653.	NM_153676.4(USH1C):c.2579C>T (p.Pro860Leu) GRCh37: Chr11:17517192 GRCh38: Chr11:17495645	USH1C	P860L	not specified	Uncertain significance (Feb 4, 2015)	criteria provided, single submitter
Select item 66735354.	NM_153676.4(USH1C):c.2577C>A (p.Ser859Arg) GRCh37: Chr11:17517194 GRCh38: Chr11:17495647	USH1C	S859R	not specified	Uncertain significance (Dec 13, 2018)	criteria provided, single submitter
Select item 50536755.	NM_153676.4(USH1C):c.2568A>G (p.Val856=) GRCh37: Chr11:17517203 GRCh38: Chr11:17495656	USH1C		not specified, not provided	Likely benign (Sep 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 73037656.	NM_153676.4(USH1C):c.2566G>A (p.Val856Ile) GRCh37: Chr11:17517205 GRCh38: Chr11:17495658	USH1C	V856I	not provided	Conflicting interpretations of pathogenicity (Mar 8, 2023)	criteria provided, conflicting interpretations
Select item 50500057.	NM_153676.4(USH1C):c.2551T>G (p.Ser851Ala) GRCh37: Chr11:17517220 GRCh38: Chr11:17495673	USH1C	S851A	not provided, not specified	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 55096658.	NM_153676.4(USH1C):c.2547-1G>T GRCh37: Chr11:17517225 GRCh38: Chr11:17495678	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Likely benign (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17856059.	NM_153676.4(USH1C):c.2547-8A>G GRCh37: Chr11:17517232 GRCh38: Chr11:17495685	USH1C		not specified, not provided	Benign/Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4800860.	NM_153676.4(USH1C):c.2547-11T>C GRCh37: Chr11:17517235 GRCh38: Chr11:17495688	USH1C		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120872161.	NM_153676.4(USH1C):c.2547-46G>A GRCh37: Chr11:17517270 GRCh38: Chr11:17495723	USH1C		not provided	Likely benign (May 25, 2020)	criteria provided, single submitter
Select item 67890862.	NM_153676.4(USH1C):c.2547-159_2547-158del GRCh37: Chr11:17517382-17517383 GRCh38: Chr11:17495835-17495836	USH1C		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 67888363.	NM_153676.4(USH1C):c.2547-183C>G GRCh37: Chr11:17517407 GRCh38: Chr11:17495860	USH1C		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 118057364.	NM_153676.4(USH1C):c.2546+125A>G GRCh37: Chr11:17518180 GRCh38: Chr11:17496633	USH1C		not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 110969465.	NM_153676.4(USH1C):c.2546+9G>A GRCh37: Chr11:17518296 GRCh38: Chr11:17496749	USH1C		not provided	Likely benign (Nov 11, 2019)	criteria provided, single submitter
Select item 115449866.	NM_153676.4(USH1C):c.2546+8T>G GRCh37: Chr11:17518297 GRCh38: Chr11:17496750	USH1C		not provided	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 190339567.	NM_153676.4(USH1C):c.2546+4A>C GRCh37: Chr11:17518301 GRCh38: Chr11:17496754	USH1C		not provided	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 54998768.	NM_153676.4(USH1C):c.2546+1G>T GRCh37: Chr11:17518304 GRCh38: Chr11:17496757	USH1C		not provided, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 155514869.	NM_153676.4(USH1C):c.2544G>A (p.Glu848=) GRCh37: Chr11:17518307 GRCh38: Chr11:17496760	USH1C		not provided	Likely benign (Jul 1, 2021)	criteria provided, single submitter
Select item 88030270.	NM_153676.4(USH1C):c.2541T>C (p.Asp847=) GRCh37: Chr11:17518310 GRCh38: Chr11:17496763	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 219242271.	NM_153676.4(USH1C):c.2540A>G (p.Asp847Gly) GRCh37: Chr11:17518311 GRCh38: Chr11:17496764	USH1C	D528G, D847G, D547G	not provided	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 95069572.	NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn) GRCh37: Chr11:17518312 GRCh38: Chr11:17496765	USH1C	D847N, D528N, D547N	Inborn genetic diseases, not provided	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17856173.	NM_153676.4(USH1C):c.2538C>T (p.Asp846=) GRCh37: Chr11:17518313 GRCh38: Chr11:17496766	USH1C		not specified, not provided	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55339174.	NM_153676.4(USH1C):c.2528dup (p.Glu844fs) GRCh37: Chr11:17518322-17518323 GRCh38: Chr11:17496775-17496776	USH1C	E844fs, E525fs, E544fs	Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Aug 18, 2017)	criteria provided, single submitter
Select item 194241375.	NM_153676.4(USH1C):c.2525C>G (p.Pro842Arg) GRCh37: Chr11:17518326 GRCh38: Chr11:17496779	USH1C	P542R, P523R, P842R	not provided	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 104971676.	NM_153676.4(USH1C):c.2525del (p.Pro842fs) GRCh37: Chr11:17518326 GRCh38: Chr11:17496779	USH1C	P523fs, P542fs, P842fs	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 144019777.	NM_153676.4(USH1C):c.2522C>A (p.Pro841His) GRCh37: Chr11:17518329 GRCh38: Chr11:17496782	USH1C	P541H, P522H, P841H	not provided	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 115787278.	NM_153676.4(USH1C):c.2520C>T (p.Cys840=) GRCh37: Chr11:17518331 GRCh38: Chr11:17496784	USH1C		not provided	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 161752479.	NM_153676.4(USH1C):c.2514C>T (p.Ala838=) GRCh37: Chr11:17518337 GRCh38: Chr11:17496790	USH1C		not provided	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 226982280.	NM_153676.4(USH1C):c.2513C>T (p.Ala838Val) GRCh37: Chr11:17518338 GRCh38: Chr11:17496791	USH1C	A538V, A519V, A838V	Inborn genetic diseases	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 208254981.	NM_153676.4(USH1C):c.2503C>T (p.Leu835Phe) GRCh37: Chr11:17518348 GRCh38: Chr11:17496801	USH1C	L516F, L835F, L535F	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214336582.	NM_153676.4(USH1C):c.2500G>A (p.Asp834Asn) GRCh37: Chr11:17518351 GRCh38: Chr11:17496804	USH1C	D515N, D534N, D834N	not provided	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 4800783.	NM_153676.4(USH1C):c.2499C>T (p.Ile833=) GRCh37: Chr11:17518352 GRCh38: Chr11:17496805	USH1C		not specified, Usher syndrome type 1C, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62748984.	NM_153676.4(USH1C):c.2491-1G>T GRCh37: Chr11:17518361 GRCh38: Chr11:17496814	USH1C		Autosomal recessive nonsyndromic hearing loss 18A	Pathogenic (Feb 26, 2019)	no assertion criteria provided
Select item 203656685.	NM_153676.4(USH1C):c.2491-5C>A GRCh37: Chr11:17518365 GRCh38: Chr11:17496818	USH1C		not provided	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 165514786.	NM_153676.4(USH1C):c.2491-5C>T GRCh37: Chr11:17518365 GRCh38: Chr11:17496818	USH1C		not provided	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 210798387.	NM_153676.4(USH1C):c.2491-7C>T GRCh37: Chr11:17518367 GRCh38: Chr11:17496820	USH1C		not provided	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 154611488.	NM_153676.4(USH1C):c.2491-15G>A GRCh37: Chr11:17518375 GRCh38: Chr11:17496828	USH1C		not provided	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 116946489.	NM_153676.4(USH1C):c.2491-16C>T GRCh37: Chr11:17518376 GRCh38: Chr11:17496829	USH1C		not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190544690.	NM_153676.4(USH1C):c.2491-17A>G GRCh37: Chr11:17518377 GRCh38: Chr11:17496830	USH1C		not provided	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 121328191.	NM_153676.4(USH1C):c.2491-41C>T GRCh37: Chr11:17518401 GRCh38: Chr11:17496854	USH1C		not provided	Likely benign (Sep 8, 2020)	criteria provided, single submitter
Select item 67890992.	NM_153676.4(USH1C):c.2491-165C>A GRCh37: Chr11:17518525 GRCh38: Chr11:17496978	USH1C		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 119526293.	NM_153676.4(USH1C):c.2490+174G>A GRCh37: Chr11:17519535 GRCh38: Chr11:17497988	USH1C		not provided	Likely benign (Jan 25, 2019)	criteria provided, single submitter
Select item 159075294.	NM_153676.4(USH1C):c.2490+18C>G GRCh37: Chr11:17519691 GRCh38: Chr11:17498144	USH1C		not provided	Likely benign (Oct 10, 2021)	criteria provided, single submitter
Select item 4800695.	NM_153676.4(USH1C):c.2490+12G>C GRCh37: Chr11:17519697 GRCh38: Chr11:17498150	USH1C		not specified, not provided, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88030396.	NM_153676.4(USH1C):c.2490+6A>C GRCh37: Chr11:17519703 GRCh38: Chr11:17498156	USH1C		Usher syndrome type 1C	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 55680297.	NM_153676.4(USH1C):c.2490+2T>C GRCh37: Chr11:17519707 GRCh38: Chr11:17498160	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Likely pathogenic (Feb 22, 2018)	criteria provided, single submitter
Select item 218853198.	NM_153676.4(USH1C):c.2490+1G>A GRCh37: Chr11:17519708 GRCh38: Chr11:17498161	USH1C		not provided	Likely pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 55788099.	NM_153676.4(USH1C):c.2490+1G>T GRCh37: Chr11:17519708 GRCh38: Chr11:17498161	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, not provided	Likely pathogenic (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 554676100.	NM_153676.4(USH1C):c.2490+1del GRCh37: Chr11:17519708 GRCh38: Chr11:17498161	USH1C		Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A	Uncertain significance (Nov 7, 2017)	criteria provided, single submitter

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