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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr11:61793-10749516
GRCh38:
Chr11:61793-10727969
A-GAMMA3'E, ADM, ADM-DT, AKIP1, AMPD3, ANO9, AP2A2, APBB1, ARFIP2, ART1, ART5, ASCL2, ASCL3, B4GALNT4, BET1L, BGLT3, BRSK2, C11orf16, C11orf21, C11orf40, C11orf42, CAND1.11, CARS1, CARS1-AS1, CASC23, CAVIN3, CCKBR, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CNGA4, CRACR2B, CTSD, CYB5R2, DCHS1, DEAF1, DENND2B, DENND5A, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FAM99A, FAM99B, FHIP1B, GATD1, HBD, H19, H19-ICR, HBB, HBB-3'HS1, HBB-HS-107, HBB-HS-111, HBB-LCR, HBE1, HBG1, HBG2, HOTS, HPX, HRAS, HS-E1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, ILK, INS, INS-IGF2, IPO7, IRAG1, IRAG1-AS1, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01001, LINC01150, LINC01219, LINC02688, LINC02708, LINC02709, LINC02749, LMNTD2, LMNTD2-AS1, LMO1, LOC100506258, LOC101927708, LOC101928008, LOC102724784, LOC105274310, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC110121453, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC112081400, LOC112081404, LOC112081405, LOC112136080, LOC112136081, LOC112136092, LOC112136094, LOC113939920, LOC113939924, LOC113939927, LOC113939928, LOC114827852, LOC116216126, LOC116216127, LOC116216128, LOC116216129, LOC121392887, LOC121392888, LOC121392889, LOC121392890, LOC143666, LOC171391, LOC283299, LOC644656, LRRC56, LSP1, LYVE1, MIR210, MIR210HG, MIR302E, MIR4298, MIR4485, MIR4686, MIR4687, MIR483, MIR5691, MIR6743, MIR6744, MIR675, MIR7847, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL17, MRPL23, MRPL23-AS1, MTRNR2L8, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP10, NLRP14, NLRP6, NRIP3, NRIP3-DT, NUP98, ODF3, 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, OVCH2, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PPFIBP2, PRR33, PSMD13, PTDSS2, RASSF7, RBMXL2, RHOG, RIC3, RIC3-DT, RIC8A, RNF141, RNH1, RPL27A, RPLP2, RRM1, RRP8, SBF2, SBF2-AS1, SCGB1C1, SCT, SCUBE2, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SMPD1, SNORA23, SNORA3A, SNORA3B, SNORA52, SNORA54, SNORD131, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, TAF10, TALDO1, TH, TIMM10B, TMEM41B, TMEM80, TMEM9B, TMEM9B-AS1, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TPP1, TRIM21, TRIM22, TRIM3, TRIM34, TRIM5, TRIM6, TRIM66, TRIM68, TRL-CAA5-1, TRPM5, TSPAN32, TSPAN4, TSSC4, TUB, TUB-AS1, UBQLN3, UBQLNL, WEE1, ZNF143, ZNF195, ZNF214, ZNF215
See casesPathogenic
(Apr 30, 2011)
no assertion criteria providedVCV000151263
2.
GRCh37:
Chr11:196855-5343104
GRCh38:
Chr11:196855-5321874
A-GAMMA3'E, ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BET1L, BGLT3, BRSK2, C11orf21, C11orf40, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, H19, H19-ICR, HBB, HBB-3'HS1, HBB-LCR, HBD, HBE1, HBG1, HBG2, HOTS, HRAS, HS-E1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02688, LINC02708, LINC02749, LMNTD2, LMNTD2-AS1, LOC101927708, LOC105274310, LOC105376526, LOC106099062, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LOC110011217, LOC110013311, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, LOC116216126, LOC116216127, LOC116216128, LOC121392887, LOC121392888, LOC143666, LOC171391, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR4687, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MMP26, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, NUP98, ODF3, OR51A2, OR51A4, OR51A7, OR51B4, OR51C1P, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52E1, OR52E2, OR52I1, OR52I2, OR52J3, OR52K1, OR52K2, OR52M1, OR52R1, OSBPL5, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000154823
3.
GRCh37:
Chr11:196966-3398307
GRCh38:
Chr11:196966-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057274
4.
GRCh37:
Chr11:196966-4456574
GRCh38:
Chr11:196966-4435344
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057258
5.
GRCh37:
Chr11:202758-31747772
GRCh38:
Chr11:202758-31726224
B4GALNT4, PTH, AMPD3, CSRP3-AS1, MIR210HG, STK33, LOC112081400, MRGPRE, OR2D2, OR52D1, LINC02686, OR51F1, MIR610, ZBED5-AS1, CARS1-AS1, OR52B6, SOX6, SNORD14B, OR51B4, MICALCL, OR56A4, ADM, EIF4G2, MIR210, KIF18A, LOC108254681, LINC00678, HBB, OR52K1, TSPAN4, ART1, NAP1L4, LINC02718, A-GAMMA3'E, OR52P1P, MIR7847, TRIM21, INS-IGF2, ANO3, NRIP3, LOC112067720, CNGA4, LOC283299, BDNF-AS, LOC108178983, SNORD14A, PTPN5, TRIM5, LOC112067719, PSMA1, USH1C, MIR4687, WEE1, CRACR2B, PNPLA2, MUC5B, LOC105980005, C11orf58, TEAD1, SPON1, OR2AG1, DENND2B, DEAF1, LOC110121487, ARNTL, NLRP6, OR51Q1, SNORD97, SBF2-AS1, PGAP2, OR51G2, LOC110121483, LOC110006319, E2F8, MUC5B-AS1, ANO9, LINC02683, STIM1-AS1, GAS2, LOC112081405, MIR8070, MRPL17, LOC110121378, MIR6073, CHRNA10, OR51A2, EIF3F, GATD1, MICAL2, OSBPL5, RNF141, CCKBR, SAA2, BTBD10, OR52R1, BRSK2, OR10A4, OR51E2, LOC110121488, POLR2L, LINC02758, SNORA52, KRTAP5-1, LINC02547, C11orf40, TSPAN32, SIRT3, CAVIN3, RIC8A, STIM1, LINC01150, LINC02688, OR51E1, LOC105376526, ARL14EP-DT, LOC644656, LOC102724784, MIR6124, OVCH2, OR52W1, LINC02749, CCDC34, SLC22A18AS, LOC110120926, ARFIP2, DENND5A, LINC02708, MOB2, CD81-AS1, MRGPRX1, PPFIBP2, SAA1, OR52E2, TMEM9B-AS1, LOC112081391, BDNF, LDHC, ZBED5, LINC02751, LOC105980073, KRTAP5-5, SMPD1, LOC106099065, SNORA23, CSRP3, LOC110121434, NRIP3-DT, TMEM41B, HBB-HS-107, OR51D1, LGR4-AS1, LINC02546, DKK3, HBB-3'HS1, IGF2, LINC02548, ANO3-AS1, ABCC8, PLEKHA7, CTSD, LOC112067717, FAR1, DRD4, LOC110121453, HBG1, PSMD13, LOC108178984, ASCL3, IPO7, OR10A6, MIR6744, MRGPRX4, MUC6, SPTY2D1OS, SBF2, LINC01495, OR51J1, TRIM3, BBOX1-AS1, KRTAP5-3, KRTAP5-4, C11orf16, PANO1, OR52N4, OR56A3, RASSF10-DT, MIR4298, PAX6_HS8, LOC110011217, LOC121392889, OR51I2, TALDO1, LDHAL6A, NLRP14, TNNI2, NAV2-AS5, LUZP2, LOC106799843, OR52E1, OR51L1, HS-E1, LOC121392890, SLC25A22, LOC143666, CCDC179, RIC3, OR56B1, LOC107133510, LOC112136092, KCNQ1-AS1, LOC112067712, CHID1, KRTAP5-2, DBX1, LOC106865369, LINC02755, HPS5, RRP8, ELP4, NAV2-AS2, TPH1, NCR3LG1, MUC15, LOC105274310, SYT8, OR6A2, LOC110120947, FIBIN, OR51M1, OR56A1, TMEM9B, SYT9, SLC17A6, CYB5R2, TUB-AS1, IGSF22, LOC101928053, NAV2-AS4, MIR4486, DUSP8, BBOX1, MPPED2-AS1, UBQLNL, HTATIP2, KCNQ1OT1, DNHD1, MRGPRG, OR51G1, OR56A5, RASSF10, DNAJC24, OR2AG2, OR52E4, LOC106736470, LOC121392891, OR52A1, MIR4485, RRM1, TRIM22, FAM99B, LMO1, MUC2, LINC02859, ASCL2, LOC121392888, FHIP1B, DCDC1, LINC02699, OR5P2, LOC109951029, OR52I1, MRGPRG-AS1, OR52H1, LOC110120848, RRAS2, IGF2-AS, CALCB, LOC106099064, INS, TAF10, SAAL1, LOC101927708, TSG101, MYOD1, KCNJ11, LOC171391, LOC113939927, LOC113939924, OR52E8, TSSC4, MRPL23, RPL27A, OR56B2P, CARS1, SLC22A18, PAX6DRR, MIR4694, LOC121392887, FANCF, MIR483, OR52B4, LINC02726, MIR6743, OR52M1, TIMM10B, MRPL23-AS1, LOC112067718, HBE1, NAV2-AS6, OR2D3, OR51B2, MRGPRX2, OR52N1, MIR4686, SNORA54, LOC106099062, IFITM2, OR52E6, C11orf42, OR10A2, OR51C1P, LOC112136094, MTRNR2L8, LOC116216127, LOC108281125, ILK, BGLT3, METTL15, LOC116216126, LOC112067714, KRTAP5-AS1, MIR4299, CALCA, INSC, ZDHHC13, LOC112081404, LMNTD2-AS1, LOC112042781, LINC02709, FAM99A, TRIM68, SAA4, PIK3C2A, SNORD131, RPLP2, LOC100506258, CEND1, USP47, TRL-CAA5-1, H19, LOC110121343, IRAG1, LINC02545, TOLLIP, LOC106783508, OR52N2, OTOG, NELL1, OR51F2, SNORA3A, IFITM3, RASSF7, MIR5691, CDHR5, OR5P3, LOC111982890, ZNF215, LINC02742, LOC110008579, COPB1, OR52E5, LOC111718490, C11orf21, SCT, PHRF1, TOLLIP-DT, IFITM10, TH, OR10A3, RBMXL2, LOC110013311, OR52I2, H19-ICR, AKIP1, HRAS, ADM-DT, GTF2H1, SWAP70, TUB, AP2A2, TPP1, OR51B6, CASC23, OR10A5, OR56B4, PHLDA2, KRTAP5-6, OR51T1, IRF7, GALNT18, SNORA3B, DCHS1, LOC112067713, OR52A5, NAV2, OR52N5, LOC114827852, IMMP1L, PTDSS2, SAA2-SAA4, ZNF195, KCNQ1, TRPM5, LOC112042782, KCNQ1DN, LOC110120922, PRR33, LOC112067715, HBD, LOC112136080, PARVA, LINC01616, SVIP, HOTS, LOC116216129, LINC00958, TMEM86A, LOC105376575, CAND1.11, LIN7C, NUP98, MIR302E, SLC6A5, OR51V1, LOC121392893, LYVE1, MPPED2, LOC112067716, LOC107988023, LMNTD2, CSNK2A3, TRIM66, UBQLN3, IFITM5, OR52J3, FSHB, OR52K2, MRGPRX3, RHOG, CD81, HBB-LCR, LSP1, KCNA4, LOC101928008, LOC109623489, ANO5, PDE3B, TRIM34, LOC112136081, TNNT3, NUCB2, LINC02729, LOC116216128, LRRC56, OR51I1, KCNC1, SCUBE2, LINC02682, SERGEF, RNH1, LOC110121471, MMP26, ART5, TMEM80, OR52B2, MIR3159, BET1L, ARL14EP, PIDD1, LGR4, SIGIRR, OR51A4, LOC113939928, MIR8068, SLC5A12, HPX, LOC113939920, UEVLD, ZNF214, CDKN1C, OR52L1, LDHA, LOC111365162, TRIM6, CD151, RPS13, MIR8087, LOC111413037, HBG2, SPTY2D1, OR51B5, MIR8054, LOC102724957, CYP2R1, LOC121392892, LOC110121340, IRAG1-AS1, SNORD147, LOC106099063, NLRP10, OR51S1, LOC113939921, MIR675, OR51A7, CTR9, OLFML1, ZNF143, LINC01219, MUC5AC, RIC3-DT, APBB1, IFITM1, HBB-HS-111, PRMT3, PGGHG, PKP3, EPS8L2
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059747
6.
GRCh37:
Chr11:218365-3398307
GRCh38:
Chr11:218365-3377077
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059748
7.
GRCh37:
Chr11:446754-18926289
GRCh38:
Chr11:446754-18904742
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, 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, 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
See casesPathogenic
(Apr 30, 2010)
no assertion criteria providedVCV000144515
8.
GRCh37:
Chr11:1126807-3235153
GRCh38:
Chr11:1132899-3213923
See casesPathogenic
(Aug 19, 2010)
no assertion criteria providedVCV000154397
9.
GRCh37:
Chr11:1558609-3381999
GRCh38:
Chr11:1537379-3360769
See casesPathogenic
(Oct 14, 2010)
no assertion criteria providedVCV000147689
10.
GRCh37:
Chr11:1996741-3645369
GRCh38:
Chr11:1975511-3624139
See casesUncertain significance
(Feb 16, 2018)
no assertion criteria providedVCV000147964
11.
GRCh37:
Chr11:1996741-2909925
GRCh38:
Chr11:1975511-2888695
See casesPathogenic
(Jun 10, 2010)
no assertion criteria providedVCV000146876
12.
GRCh37:
Chr11:2128173-2586899
GRCh38:
Chr11:2106943-2565669
See casesUncertain significance
(Sep 9, 2013)
no assertion criteria providedVCV000155520
13.
GRCh37:
Chr11:2170582-2488772
GRCh38:
Chr11:2149352-2467542
See casesUncertain significance
(Apr 14, 2011)
no assertion criteria providedVCV000148331
14.
GRCh37:
Chr11:2465944
GRCh38:
Chr11:2444714
KCNQ1not providedLikely benign
(Aug 15, 2019)
criteria provided, single submitterVCV001201132
15.
GRCh37:
Chr11:2466215
GRCh38:
Chr11:2444985
KCNQ1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001225723
16.
GRCh37:
Chr11:2466216
GRCh38:
Chr11:2444986
KCNQ1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001227723
17.
GRCh37:
Chr11:2466260
GRCh38:
Chr11:2445030
KCNQ1Short QT syndrome 2, Congenital long QT syndrome, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000304212
18.
GRCh37:
Chr11:2466274
GRCh38:
Chr11:2445044
KCNQ1Long QT syndrome 1, Short QT syndrome 2, Atrial fibrillation, familial, 3,
Jervell and Lange-Nielsen syndrome 1
Uncertain significance
(May 1, 2019)
criteria provided, single submitterVCV000877952
19.
GRCh37:
Chr11:2466291
GRCh38:
Chr11:2445061
KCNQ1Long QT syndrome 1, not provided, Congenital long QT syndrome,
Short QT syndrome 2, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000304213
20.
GRCh37:
Chr11:2466304
GRCh38:
Chr11:2445074
KCNQ1not specifiedLikely benign
(Apr 7, 2017)
criteria provided, single submitterVCV000506583
21.
GRCh37:
Chr11:2466324
GRCh38:
Chr11:2445094
KCNQ1not specified, not provided, Cardiovascular phenotype,
Congenital long QT syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1,
Atrial fibrillation, familial, 3, Short QT syndrome 2
Conflicting interpretations of pathogenicity
(Aug 1, 2021)
criteria provided, conflicting interpretationsVCV000138009
22.
GRCh37:
Chr11:2466329
GRCh38:
Chr11:2445099
KCNQ1M1LLong QT syndromePathogenic
(Aug 2, 2016)
criteria provided, single submitterVCV000220309
23.
GRCh37:
Chr11:2466329
GRCh38:
Chr11:2445099
KCNQ1M1VCongenital long QT syndromenot providedno assertion providedVCV000067064
24.
GRCh37:
Chr11:2466330
GRCh38:
Chr11:2445100
KCNQ1M1Knot providedPathogenic
(Feb 3, 2016)
criteria provided, single submitterVCV000488859
25.
GRCh37:
Chr11:2466330
GRCh38:
Chr11:2445100
KCNQ1M1TCongenital long QT syndromenot providedno assertion providedVCV000053033
26.
GRCh37:
Chr11:2466332
GRCh38:
Chr11:2445102
KCNQ1A2Tnot providedUncertain significanceno assertion criteria providedVCV001050694
27.
GRCh37:
Chr11:2466333
GRCh38:
Chr11:2445103
KCNQ1Long QT syndrome 1Likely pathogenic
(Jul 27, 2017)
criteria provided, single submitterVCV000431053
28.
GRCh37:
Chr11:2466333
GRCh38:
Chr11:2445103
KCNQ1A2VCongenital long QT syndrome, not providedUncertain significance
(May 27, 2014)
criteria provided, single submitterVCV000067091
29.
GRCh37:
Chr11:2466336
GRCh38:
Chr11:2445106
KCNQ1A3Gnot providedUncertain significance
(Dec 31, 2019)
criteria provided, single submitterVCV000200866
30.
GRCh37:
Chr11:2466345
GRCh38:
Chr11:2445115
KCNQ1P7fsnot providedLikely pathogenic
(Apr 30, 2018)
criteria provided, single submitterVCV000523933
31.
GRCh37:
Chr11:2466347
GRCh38:
Chr11:2445117
KCNQ1P7SCongenital long QT syndrome, Long QT syndrome, Long QT syndrome 1,
not specified
Uncertain significance
(Sep 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000053028
32.
GRCh37:
Chr11:2466354
GRCh38:
Chr11:2445124
KCNQ1R9TLong QT syndrome 1, Jervell and Lange-Nielsen syndrome 1Uncertain significancecriteria provided, single submitterVCV000979113
33.
GRCh37:
Chr11:2466357
GRCh38:
Chr11:2445127
KCNQ1A10DJervell and Lange-Nielsen syndrome, Long QT syndrome, short QT syndrome,
Familial atrial fibrillation, Congenital long QT syndrome
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304214
34.
GRCh37:
Chr11:2466359
GRCh38:
Chr11:2445129
KCNQ1E11KCardiovascular phenotype, not providedConflicting interpretations of pathogenicity
(Aug 12, 2019)
criteria provided, conflicting interpretationsVCV000418271
35.
GRCh37:
Chr11:2466365
GRCh38:
Chr11:2445135
KCNQ1K13*not providedPathogenic
(Apr 10, 2015)
criteria provided, single submitterVCV000200867
36.
GRCh37:
Chr11:2466366
GRCh38:
Chr11:2445136
KCNQ1K13RLong QT syndromeUncertain significance
(Feb 13, 2018)
criteria provided, single submitterVCV000405256
37.
GRCh37:
Chr11:2466368
GRCh38:
Chr11:2445138
KCNQ1R14Cnot providednot providedno assertion providedVCV000067071
38.
GRCh37:
Chr11:2466369
GRCh38:
Chr11:2445139
KCNQ1R14LLong QT syndrome 1, Long QT syndrome, Jervell and Lange-Nielsen syndrome 1,
Atrial fibrillation, familial, 3, Short QT syndrome 2, not provided
Uncertain significance
(Aug 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000804969
39.
GRCh37:
Chr11:2466379
GRCh38:
Chr11:2445149
KCNQ1W17*Long QT syndromePathogenic
(Oct 25, 2018)
criteria provided, single submitterVCV000663623
40.
GRCh37:
Chr11:2466392
GRCh38:
Chr11:2445162
KCNQ1G22Rnot provided, Long QT syndromeUncertain significance
(Aug 8, 2018)
criteria provided, multiple submitters, no conflictsVCV000200868
41.
GRCh37:
Chr11:2466394
GRCh38:
Chr11:2445164
KCNQ1Jervell and Lange-Nielsen syndrome, short QT syndrome, Congenital long QT syndrome,
Long QT syndrome, Familial atrial fibrillation
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000304215
42.
GRCh37:
Chr11:2466398
GRCh38:
Chr11:2445168
KCNQ1R24WLong QT syndromeUncertain significance
(Apr 24, 2019)
criteria provided, single submitterVCV000946105
43.
GRCh37:
Chr11:2466402
GRCh38:
Chr11:2445172
KCNQ1R25PConduction disorder of the heartUncertain significancecriteria provided, single submitterVCV000684795
44.
GRCh37:
Chr11:2466409
GRCh38:
Chr11:2445179
KCNQ1S27Rnot providedUncertain significance
(May 7, 2014)
criteria provided, single submitterVCV000200869
45.
GRCh37:
Chr11:2466411
GRCh38:
Chr11:2445181
KCNQ1A28GLong QT syndromeUncertain significance
(Oct 18, 2020)
criteria provided, single submitterVCV001036317
46.
GRCh37:
Chr11:2466422
GRCh38:
Chr11:2445192
KCNQ1K32*not provided, Long QT syndromePathogenic
(Apr 2, 2018)
criteria provided, multiple submitters, no conflictsVCV000523769
47.
GRCh37:
Chr11:2466432
GRCh38:
Chr11:2445202
KCNQ1P35LLong QT syndromeUncertain significance
(Feb 10, 2020)
criteria provided, single submitterVCV000840373
48.
GRCh37:
Chr11:2466433
GRCh38:
Chr11:2445203
KCNQ1not provided, Long QT syndromeLikely benign
(Nov 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000378010
49.
GRCh37:
Chr11:2466442
GRCh38:
Chr11:2445212
KCNQ1Long QT syndromeLikely benign
(Aug 25, 2019)
criteria provided, single submitterVCV001096018
50.
GRCh37:
Chr11:2466442
GRCh38:
Chr11:2445212
KCNQ1Long QT syndromeUncertain significance
(Apr 12, 2018)
criteria provided, single submitterVCV000573804
51.
GRCh37:
Chr11:2466443
GRCh38:
Chr11:2445213
KCNQ1E39*Jervell and Lange-Nielsen syndrome 1Pathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000375455
52.
GRCh37:
Chr11:2466451
GRCh38:
Chr11:2445221
KCNQ1Long QT syndromeLikely benign
(Jan 31, 2020)
criteria provided, single submitterVCV000704518
53.
GRCh37:
Chr11:2466452
GRCh38:
Chr11:2445222
KCNQ1E42*not providedLikely pathogenic
(Sep 6, 2017)
criteria provided, single submitterVCV000488698
54.
GRCh37:
Chr11:2466457
GRCh38:
Chr11:2445227
KCNQ1Long QT syndrome, not specifiedLikely benign
(Jan 23, 2019)
criteria provided, multiple submitters, no conflictsVCV000378894
55.
GRCh37:
Chr11:2466461-2466462
GRCh38:
Chr11:2445231-2445232
KCNQ1A49fsnot providedPathogenic
(Jan 27, 2017)
criteria provided, single submitterVCV000420658
56.
GRCh37:
Chr11:2466462
GRCh38:
Chr11:2445232
KCNQ1P45Rnot providedUncertain significance
(Jul 2, 2020)
criteria provided, single submitterVCV001312976
57.
GRCh37:
Chr11:2466464
GRCh38:
Chr11:2445234
KCNQ1A46Tnot specified, Congenital long QT syndrome, not provided,
Cardiovascular phenotype, Long QT syndrome 1
Uncertain significance
(Sep 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000052982
58.
GRCh37:
Chr11:2466472
GRCh38:
Chr11:2445242
KCNQ1not provided, Long QT syndromeLikely benign
(Apr 22, 2016)
criteria provided, single submitterVCV000413283
59.
GRCh37:
Chr11:2466478-2466479
GRCh38:
Chr11:2445248-2445249
KCNQ1Y51fsLong QT syndrome 1not providedno assertion providedVCV000052987
60.
GRCh37:
Chr11:2466480-2466481
GRCh38:
Chr11:2445250-2445251
KCNQ1Atrial fibrillation, familial, 3, Long QT syndrome, Ventricular fibrillation,
Cardiovascular phenotype, not provided, not specified
Conflicting interpretations of pathogenicity
(Nov 27, 2020)
criteria provided, conflicting interpretationsVCV000042487
61.
GRCh37:
Chr11:2466481
GRCh38:
Chr11:2445251
KCNQ1Y51*Long QT syndrome, Cardiac arrhythmiaPathogenic
(Oct 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000933168
62.
GRCh37:
Chr11:2466481
GRCh38:
Chr11:2445251
KCNQ1Y51*Arrhythmia, not provided, Long QT syndrome
Pathogenic
(May 17, 2021)
criteria provided, multiple submitters, no conflictsVCV000052989
63.
GRCh37:
Chr11:2466482-2466497
GRCh38:
Chr11:2445252-2445267
KCNQ1I54fsLong QT syndromePathogenic
(Oct 1, 2020)
criteria provided, single submitterVCV001072801
64.
GRCh37:
Chr11:2466487
GRCh38:
Chr11:2445257
KCNQ1not providedLikely benign
(Jan 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000379001
65.
GRCh37:
Chr11:2466488-2466489
GRCh38:
Chr11:2445258-2445259
KCNQ1not providedLikely benign
(Mar 3, 2015)
criteria provided, single submitterVCV001209311
66.
GRCh37:
Chr11:2466490-2466512
GRCh38:
Chr11:2445260-2445282
KCNQ1G57fsCardiac arrhythmiaPathogenic
(Sep 27, 2012)
criteria provided, single submitterVCV000200889
67.
GRCh37:
Chr11:2466493
GRCh38:
Chr11:2445263
KCNQ1Long QT syndromeLikely benign
(Jul 9, 2019)
criteria provided, single submitterVCV001161973
68.
GRCh37:
Chr11:2466496
GRCh38:
Chr11:2445266
KCNQ1not providedLikely benign
(Jun 27, 2019)
criteria provided, single submitterVCV001203548
69.
GRCh37:
Chr11:2466496
GRCh38:
Chr11:2445266
KCNQ1Long QT syndromeLikely benign
(Jun 3, 2019)
criteria provided, single submitterVCV001094749
70.
GRCh37:
Chr11:2466497-2466498
GRCh38:
Chr11:2445267-2445268
KCNQ1not providedLikely benign
(Mar 3, 2015)
criteria provided, single submitterVCV001216469
71.
GRCh37:
Chr11:2466498
GRCh38:
Chr11:2445268
KCNQ1G57DLong QT syndromeUncertain significance
(Jan 31, 2020)
criteria provided, single submitterVCV001057004
72.
GRCh37:
Chr11:2466498
GRCh38:
Chr11:2445268
KCNQ1G57VCongenital long QT syndromenot providedno assertion providedVCV000067051
73.
GRCh37:
Chr11:2466501
GRCh38:
Chr11:2445271
KCNQ1P59fsnot providedPathogenic
(Aug 16, 2011)
no assertion criteria providedVCV000635221
74.
GRCh37:
Chr11:2466503
GRCh38:
Chr11:2445273
KCNQ1P59ACardiovascular phenotypeUncertain significance
(Nov 27, 2017)
criteria provided, single submitterVCV000518877
75.
GRCh37:
Chr11:2466505
GRCh38:
Chr11:2445275
KCNQ1Long QT syndrome, not providedLikely benign
(Feb 20, 2018)
criteria provided, single submitterVCV000745522
76.
GRCh37:
Chr11:2466509
GRCh38:
Chr11:2445279
KCNQ1P61Tnot specified, not providedUncertain significance
(Aug 16, 2019)
criteria provided, multiple submitters, no conflictsVCV000517627
77.
GRCh37:
Chr11:2466510-2466530
GRCh38:
Chr11:2445280-2445300
KCNQ1Long QT syndrome, not providedUncertain significance
(Sep 24, 2020)
criteria provided, multiple submitters, no conflictsVCV001001109
78.
GRCh37:
Chr11:2466510-2466539
GRCh38:
Chr11:2445280-2445309
KCNQ1not providedUncertain significance
(Mar 5, 2018)
criteria provided, single submitterVCV000504457
79.
GRCh37:
Chr11:2466512
GRCh38:
Chr11:2445282
KCNQ1A62Tnot specifiedLikely benign
(Dec 17, 2013)
criteria provided, single submitterVCV000200880
80.
GRCh37:
Chr11:2466515
GRCh38:
Chr11:2445285
KCNQ1P63SLong QT syndromeUncertain significance
(Jan 21, 2020)
criteria provided, single submitterVCV001058075
81.
GRCh37:
Chr11:2466515
GRCh38:
Chr11:2445285
KCNQ1P63TLong QT syndrome 1, Short QT syndrome 2, Atrial fibrillation, familial, 3,
Jervell and Lange-Nielsen syndrome 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000879571
82.
GRCh37:
Chr11:2466515-2466516
GRCh38:
Chr11:2445285-2445286
KCNQ1Long QT syndromeUncertain significance
(May 23, 2018)
criteria provided, single submitterVCV000576506
83.
GRCh37:
Chr11:2466518
GRCh38:
Chr11:2445288
KCNQ1P64Snot providedUncertain significance
(Jan 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000502107
84.
GRCh37:
Chr11:2466520
GRCh38:
Chr11:2445290
KCNQ1Long QT syndrome, not provided, not specified
Likely benign
(Apr 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000666706
85.
GRCh37:
Chr11:2466525
GRCh38:
Chr11:2445295
KCNQ1S66YLong QT syndromeUncertain significance
(Oct 16, 2019)
criteria provided, single submitterVCV000933445
86.
GRCh37:
Chr11:2466525-2466535
GRCh38:
Chr11:2445295-2445305
KCNQ1P67fsCardiovascular phenotype, Long QT syndrome, not provided
Pathogenic
(Jun 3, 2021)
criteria provided, multiple submitters, no conflictsVCV000449221
87.
GRCh37:
Chr11:2466525
GRCh38:
Chr11:2445295
KCNQ1P67fsLong QT syndromePathogenic
(Apr 22, 2016)
criteria provided, single submitterVCV000405258
88.
GRCh37:
Chr11:2466525
GRCh38:
Chr11:2445295
KCNQ1S66FCongenital long QT syndrome, Long QT syndromeUncertain significance
(Nov 7, 2019)
criteria provided, single submitterVCV000067063
89.
GRCh37:
Chr11:2466529-2466530
GRCh38:
Chr11:2445299-2445300
KCNQ1not specified, Long QT syndrome 1Uncertain significance
(Dec 29, 2020)
criteria provided, single submitterVCV000053030
90.
GRCh37:
Chr11:2466530-2466538
GRCh38:
Chr11:2445300-2445308
KCNQ1Long QT syndrome, not provided, Long QT syndrome 1
Uncertain significance
(Sep 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000003130
91.
GRCh37:
Chr11:2466535
GRCh38:
Chr11:2445305
KCNQ1not provided, Short QT syndrome 2, Long QT syndrome 1,
Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3, Long QT syndrome,
Cardiovascular phenotype, not specified
Benign/Likely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000138010
92.
GRCh37:
Chr11:2466536
GRCh38:
Chr11:2445306
KCNQ1P70Tnot providedUncertain significance
(Jan 29, 2013)
criteria provided, single submitterVCV000200871
93.
GRCh37:
Chr11:2466545
GRCh38:
Chr11:2445315
KCNQ1P73TCardiovascular phenotype, Congenital long QT syndrome, Short QT syndrome 2,
not provided, Long QT syndrome 1, Long QT syndrome
Uncertain significance
(Jun 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000053031
94.
GRCh37:
Chr11:2466550
GRCh38:
Chr11:2445320
KCNQ1Long QT syndromeLikely benign
(May 28, 2020)
criteria provided, single submitterVCV001100473
95.
GRCh37:
Chr11:2466553
GRCh38:
Chr11:2445323
KCNQ1Long QT syndrome, not specified, Cardiovascular phenotype
Benign/Likely benign
(Aug 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000163732
96.
GRCh37:
Chr11:2466558
GRCh38:
Chr11:2445328
KCNQ1S77Fnot provided, Long QT syndromeUncertain significance
(Mar 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000451983
97.
GRCh37:
Chr11:2466560
GRCh38:
Chr11:2445330
KCNQ1D78HLong QT syndromeUncertain significance
(Oct 3, 2020)
criteria provided, single submitterVCV001060673
98.
GRCh37:
Chr11:2466561
GRCh38:
Chr11:2445331
KCNQ1D78ALong QT syndromeUncertain significance
(Aug 19, 2019)
criteria provided, single submitterVCV000943522
99.
GRCh37:
Chr11:2466567
GRCh38:
Chr11:2445337
KCNQ1G80ALong QT syndromeUncertain significance
(Aug 27, 2019)
criteria provided, single submitterVCV000960512
100.
GRCh37:
Chr11:2466570
GRCh38:
Chr11:2445340
KCNQ1P81Lnot providedUncertain significance
(Oct 15, 2018)
criteria provided, single submitterVCV000200875
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