3784[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1512631.	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 GRCh37: Chr11:61793-10749516 GRCh38: Chr11:61793-10727969	PNPLA2, POLR2L, PPFIBP2, PRADX, 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, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, STK33, SWAP70, SYT8, SYT9, SYT9-AS1, 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, 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, DENND2B-AS1, DENND5A, DNHD1, DRD4, DUSP8, EIF3F, EPS8L2, FAM99A, FAM99B, FHIP1B, GATD1, GATD1-DT, 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, LOC101927708, LOC101928008, 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, LOC121832782, LOC121832783, LOC121832784, LOC121832785, LOC121832786, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC124418422, LOC124418423, LOC124418426, LOC124421482, LOC124421483, LOC124421484, LOC124421485, LOC124421486, LOC124902806, LOC126861108, 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, LOC143666, 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, OR52P1, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B2P, OR56B4, OR5P2, OR5P3, OR6A2, OSBPL5, OVCH2, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 1548232.	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 GRCh37: Chr11:196855-5343104 GRCh38: Chr11:196855-5321874	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, LOC121832782, LOC121832783, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC126861117, LOC126861118, LOC143666, 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, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRIM68, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195, 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, GATD1-DT, H19, H19-ICR		See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 572743.	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 GRCh37: Chr11:196966-3398307 GRCh38: Chr11:196966-3377077	ANO9, AP2A2, ASCL2, B4GALNT4, BET1L, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, HRAS, 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, LMNTD2, LMNTD2-AS1, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, ODF3, OSBPL5, PANO1, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RIC8A, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 572584.	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 GRCh37: Chr11:196966-4456574 GRCh38: Chr11:196966-4435344	ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BET1L, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, HRAS, 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, LOC106783508, LOC106799843, LOC106865369, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC121832782, LOC121832783, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418420, LOC124418421, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC126861116, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR4687, MIR483, MIR6743, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, NUP98, ODF3, OR52B4, OSBPL5, PANO1, PGAP2, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RHOG, RIC8A, RNH1, RPLP2, RRM1, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SSU72L1, SSU72L2, SSU72L3, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 597485.	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 GRCh37: Chr11:218365-3398307 GRCh38: Chr11:218365-3377077	ANO9, AP2A2, ASCL2, B4GALNT4, BRSK2, C11orf21, CARS1, CARS1-AS1, CD151, CD81, CD81-AS1, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, FAM99A, FAM99B, GATD1, GATD1-DT, H19, H19-ICR, HOTS, LINC02688, HRAS, 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, LINC02708, LMNTD2, LMNTD2-AS1, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216126, LOC116216127, LOC121392887, LOC121392888, LOC124418409, LOC124418411, LOC124418412, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861108, LOC126861109, LOC126861110, LOC126861111, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LOC143666, LRRC56, LSP1, MIR210, MIR210HG, MIR4298, MIR4686, MIR483, MIR6744, MIR675, MIR7847, MOB2, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, MUC2, MUC5AC, MUC5B, MUC5B-AS1, MUC6, NAP1L4, NLRP6, OSBPL5, PANO1, PGGHG, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PRADX, PRR33, PSMD13, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1445156.	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, 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, 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, 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 144457.	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del GRCh38: Chr11:499700-5279697	C11orf40, CEND1, FAM99A, LINC01219, LOC105274310, LOC105376526, LOC106099062, LOC110011217, LOC110013311, LOC121832782, LOC121832783, LOC124418411, LOC124418412, LOC124418420, LOC124418421, LOC126861109, LOC126861118, MIR4686, MIR4687, MIR483, MRGPRG, OR51C1P, OR51D1, OR51T1, OR51V1, OR52I1, OR52I2, PNPLA2, POLR2L, SCT, TH, TRIM68, TRPM5, TSPAN32, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRIM21, TSPAN4, TSSC4, ZNF195, SSU72L1, SSU72L2, SSU72L3, RNH1, RPLP2, RRM1, SSU72L4, SSU72L5, STIM1, STIM1-AS1, SYT8, TALDO1, TMEM80, OR52J3, OR52K1, OR52B4, OR52E1, OR52E2, OR52K2, OR52M1, OR52R1, PIDD1, PRADX, PRR33, OR51E1, MUC5AC, MUC5B, MUC5B-AS1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, RASSF7, RHOG, OR52A1, MIR6744, MIR675, LSP1, MIR210, MIR210HG, MIR4298, MIR7847, MMP26, MOB2, MRGPRE, OR52A5, MRGPRG-AS1, MRPL23, LOC126861110, LOC126861111, LOC126861114, LOC126861115, MRPL23-AS1, MUC2, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC124418413, LOC124418414, LOC126861112, LOC126861113, LOC126861116, LOC126861117, LOC143666, LOC106099063, LOC106099064, LOC106099065, LOC106783508, LOC106799843, LOC106865369, LOC107133510, LOC109623489, LOC109951029, LOC110006319, LOC110008579, LRRC56, LOC110121378, LOC111718490, LOC112067719, LOC112067720, LOC112081391, LOC113939920, FAM99B, GATD1, LOC116216127, LOC116216128, KCNQ1DN, LINC02688, LINC02708, LMNTD2-AS1, LMNTD2, LOC101927708, CARS1, LOC121392887, LOC121392888, CHID1, CHRNA10, DRD4, DUSP8, ART1, CARS1-AS1, CRACR2B, CTSD, EPS8L2, GATD1-DT, LINC02749, BRSK2, C11orf21, ART5, CD151, DEAF1, CD81, CD81-AS1, CDHR5, CDKN1C, HBE1, HBG1, ASCL2, BGLT3, HBG2, HOTS, AP2A2, A-GAMMA3'E, H19, H19-ICR, HBB, HBB-3'HS1, HBB-LCR, HBD, HRAS, HS-E1, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1-AS1, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, MUC6, NAP1L4, NUP98, OR51A2, OR51A4, OR51A7, OSBPL5, PANO1, PGAP2, PHLDA2, PHRF1, SLC22A18, SLC22A18AS, SLC25A22, SNORA52, SNORA54, SNORD131		Thalassemia, gamma-delta-beta	Pathogenic (Oct 1, 1989)	no assertion criteria provided
Select item 1543978.	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 GRCh37: Chr11:1126807-3235153 GRCh38: Chr11:1132899-3213923	ASCL2, BRSK2, C11orf21, CARS1, CARS1-AS1, CD81, CD81-AS1, CDKN1C, CTSD, DUSP8, FAM99A, FAM99B, H19, H19-ICR, HOTS, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02708, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216127, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861112, LOC126861113, LOC126861114, LOC126861115, LSP1, MIR4298, MIR4686, MIR483, MIR6744, MIR675, MIR7847, MOB2, MRPL23, MRPL23-AS1, MUC5AC, MUC5B, MUC5B-AS1, NAP1L4, OSBPL5, PHLDA2, PRADX, PRR33, SLC22A18, SLC22A18AS, SNORA54, SNORD131, SYT8, TH, TNNI2, TNNT3, TOLLIP, TOLLIP-DT, TRPM5, TSPAN32, TSSC4		See cases	Pathogenic (Aug 19, 2010)	no assertion criteria provided
Select item 1476899.	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 GRCh37: Chr11:1558609-3381999 GRCh38: Chr11:1537379-3360769	KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, KRTAP5-AS1, LINC01150, LINC01219, LINC02708, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC110121378, LOC111718490, LOC112067719, LOC113939920, LOC116216127, LOC124418413, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC126861113, LOC126861114, LOC126861115, LSP1, MIR4298, MIR4686, MIR483, MIR675, MIR7847, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, NAP1L4, OSBPL5, PHLDA2, PRADX, PRR33, SLC22A18, SLC22A18AS, SNORA54, SNORD131, SYT8, TH, TNNI2, TNNT3, TRPM5, TSPAN32, TSSC4, ZNF195, ASCL2, C11orf21, CARS1, CARS1-AS1, CD81, CD81-AS1, CDKN1C, CTSD, DUSP8, FAM99A, FAM99B, H19, H19-ICR, HOTS, IFITM10, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN		See cases	Pathogenic (Oct 14, 2010)	no assertion criteria provided
Select item 14796410.	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 GRCh37: Chr11:1996741-3645369 GRCh38: Chr11:1975511-3624139	ASCL2, C11orf21, CARS1, CARS1-AS1, CD81, CD81-AS1, CDKN1C, H19, H19-ICR, HOTS, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1, LINC01219, LOC101927708, LOC105274310, LOC105376526, LOC106783508, LOC106799843, LOC109623489, LOC112067719, LOC112067720, LOC113939920, LOC116216127, LOC124418414, LOC124418415, LOC124418416, LOC124418418, LOC124418419, LOC126861115, MIR4686, MIR483, MIR675, MRGPRE, MRGPRG, MRGPRG-AS1, MRPL23, MRPL23-AS1, NAP1L4, OSBPL5, PHLDA2, SLC22A18, SLC22A18AS, SNORA54, TH, TRPM5, TSPAN32, TSSC4, ZNF195		See cases	Uncertain significance (Feb 16, 2018)	no assertion criteria provided
Select item 14687611.	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 GRCh37: Chr11:1996741-2909925 GRCh38: Chr11:1975511-2888695	CDKN1C, H19, LINC01219, LOC105274310, LOC106783508, LOC106799843, LOC109623489, LOC113939920, LOC116216127, LOC124418414, LOC124418415, LOC124418416, MIR4686, MIR483, MIR675, MRPL23, MRPL23-AS1, SLC22A18AS, TH, TRPM5, TSPAN32, TSSC4, ASCL2, C11orf21, CD81, CD81-AS1, H19-ICR, HOTS, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, KCNQ1-AS1, KCNQ1DN, KCNQ1OT1		See cases	Pathogenic (Jun 10, 2010)	no assertion criteria provided
Select item 15552012.	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 GRCh37: Chr11:2128173-2586899 GRCh38: Chr11:2106943-2565669	ASCL2, C11orf21, CD81, CD81-AS1, IGF2, IGF2-AS, INS, INS-IGF2, KCNQ1, LOC106799843, LOC109623489, LOC124418414, LOC124418415, LOC124418416, MIR4686, MIR483, TH, TRPM5, TSPAN32, TSSC4		See cases	Uncertain significance (Sep 9, 2013)	no assertion criteria provided
Select item 14833113.	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3 GRCh37: Chr11:2170582-2488772 GRCh38: Chr11:2149352-2467542	ASCL2, C11orf21, CD81, CD81-AS1, IGF2, INS, INS-IGF2, KCNQ1, LOC106799843, LOC109623489, LOC124418414, LOC124418415, LOC124418416, MIR4686, TH, TRPM5, TSPAN32, TSSC4		See cases	Uncertain significance (Apr 14, 2011)	no assertion criteria provided
Select item 120113214.	Single allele GRCh37: Chr11:2465944 GRCh38: Chr11:2444714	KCNQ1		not provided	Likely benign (Aug 15, 2019)	criteria provided, single submitter
Select item 122572315.	Single allele GRCh37: Chr11:2466215 GRCh38: Chr11:2444985	KCNQ1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 122772316.	Single allele GRCh37: Chr11:2466216 GRCh38: Chr11:2444986	KCNQ1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 30421217.	NM_000218.3(KCNQ1):c.-69G>A GRCh37: Chr11:2466260 GRCh38: Chr11:2445030	KCNQ1		Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome 1, Short QT syndrome type 2, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome, Atrial fibrillation, familial, 3, Long QT syndrome 1	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87795218.	NM_000218.3(KCNQ1):c.-55G>C GRCh37: Chr11:2466274 GRCh38: Chr11:2445044	KCNQ1		Long QT syndrome 1, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1	Uncertain significance (May 1, 2019)	criteria provided, single submitter
Select item 30421319.	NM_000218.3(KCNQ1):c.-38C>T GRCh37: Chr11:2466291 GRCh38: Chr11:2445061	KCNQ1		Short QT syndrome type 2, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Congenital long QT syndrome, not provided	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 50658320.	NM_000218.3(KCNQ1):c.-24del GRCh37: Chr11:2466304 GRCh38: Chr11:2445074	KCNQ1		not specified	Likely benign (Apr 7, 2017)	criteria provided, single submitter
Select item 13800921.	NM_000218.3(KCNQ1):c.-5T>C GRCh37: Chr11:2466324 GRCh38: Chr11:2445094	KCNQ1		Cardiovascular phenotype, Congenital long QT syndrome, not specified, not provided, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 174468822.	NM_000218.3(KCNQ1):c.-4C>A GRCh37: Chr11:2466325 GRCh38: Chr11:2445095	KCNQ1		Cardiovascular phenotype	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 173691123.	NM_000218.3(KCNQ1):c.-3G>C GRCh37: Chr11:2466326 GRCh38: Chr11:2445096	KCNQ1		Cardiovascular phenotype	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 173690624.	NM_000218.3(KCNQ1):c.-3G>A GRCh37: Chr11:2466326 GRCh38: Chr11:2445096	KCNQ1		Cardiovascular phenotype	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 22030925.	NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu) GRCh37: Chr11:2466329 GRCh38: Chr11:2445099	KCNQ1	M1L	Long QT syndrome	Pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 6706426.	NM_000218.3(KCNQ1):c.1A>G (p.Met1Val) GRCh37: Chr11:2466329 GRCh38: Chr11:2445099	KCNQ1	M1V	Congenital long QT syndrome	not provided	no assertion provided
Select item 48885927.	NM_000218.3(KCNQ1):c.2T>A (p.Met1Lys) GRCh37: Chr11:2466330 GRCh38: Chr11:2445100	KCNQ1	M1K	not provided	Pathogenic (Feb 3, 2016)	criteria provided, single submitter
Select item 5303328.	NM_000218.3(KCNQ1):c.2T>C (p.Met1Thr) GRCh37: Chr11:2466330 GRCh38: Chr11:2445100	KCNQ1	M1T	Congenital long QT syndrome	not provided	no assertion provided
Select item 105069429.	NM_000218.3(KCNQ1):c.4G>A (p.Ala2Thr) GRCh37: Chr11:2466332 GRCh38: Chr11:2445102	KCNQ1	A2T	not provided	Uncertain significance	no assertion criteria provided
Select item 43105330.	NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly) GRCh37: Chr11:2466333 GRCh38: Chr11:2445103	KCNQ1		Long QT syndrome 1	Likely pathogenic (Jul 27, 2017)	criteria provided, single submitter
Select item 6709131.	NM_000218.3(KCNQ1):c.5C>T (p.Ala2Val) GRCh37: Chr11:2466333 GRCh38: Chr11:2445103	KCNQ1	A2V	not provided	Uncertain significance (May 27, 2014)	criteria provided, single submitter
Select item 199650232.	NM_000218.3(KCNQ1):c.7G>C (p.Ala3Pro) GRCh37: Chr11:2466335 GRCh38: Chr11:2445105	KCNQ1	A3P	Long QT syndrome	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 20086633.	NM_000218.3(KCNQ1):c.8C>G (p.Ala3Gly) GRCh37: Chr11:2466336 GRCh38: Chr11:2445106	KCNQ1	A3G	not provided	Uncertain significance (Dec 31, 2019)	criteria provided, single submitter
Select item 52393334.	NM_000218.3(KCNQ1):c.20del (p.Pro7fs) GRCh37: Chr11:2466345 GRCh38: Chr11:2445115	KCNQ1	P7fs	not provided	Likely pathogenic (Apr 30, 2018)	criteria provided, single submitter
Select item 5302835.	NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) GRCh37: Chr11:2466347 GRCh38: Chr11:2445117	KCNQ1	P7S	not specified, not provided, Long QT syndrome 1, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, Long QT syndrome	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 241564636.	NM_000218.3(KCNQ1):c.21G>A (p.Pro7=) GRCh37: Chr11:2466349 GRCh38: Chr11:2445119	KCNQ1		Long QT syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217808037.	NM_000218.3(KCNQ1):c.21G>C (p.Pro7=) GRCh37: Chr11:2466349 GRCh38: Chr11:2445119	KCNQ1		Long QT syndrome	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 97911338.	NM_000218.3(KCNQ1):c.26G>C (p.Arg9Thr) GRCh37: Chr11:2466354 GRCh38: Chr11:2445124	KCNQ1	R9T	Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1	Uncertain significance	criteria provided, single submitter
Select item 30421439.	NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) GRCh37: Chr11:2466357 GRCh38: Chr11:2445127	KCNQ1	A10D	Familial atrial fibrillation, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome, Short QT syndrome, Long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 172760640.	NM_000218.3(KCNQ1):c.30C>G (p.Ala10=) GRCh37: Chr11:2466358 GRCh38: Chr11:2445128	KCNQ1		Cardiovascular phenotype	Likely benign (Jan 21, 2021)	criteria provided, single submitter
Select item 41827141.	NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys) GRCh37: Chr11:2466359 GRCh38: Chr11:2445129	KCNQ1	E11K	Long QT syndrome, Cardiovascular phenotype, not provided	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218838442.	NM_000218.3(KCNQ1):c.36G>A (p.Arg12=) GRCh37: Chr11:2466364 GRCh38: Chr11:2445134	KCNQ1		Long QT syndrome	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 20086743.	NM_000218.3(KCNQ1):c.37A>T (p.Lys13Ter) GRCh37: Chr11:2466365 GRCh38: Chr11:2445135	KCNQ1	K13*	not provided	Pathogenic (Apr 10, 2015)	criteria provided, single submitter
Select item 40525644.	NM_000218.3(KCNQ1):c.38A>G (p.Lys13Arg) GRCh37: Chr11:2466366 GRCh38: Chr11:2445136	KCNQ1	K13R	Long QT syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 6707145.	NM_000218.3(KCNQ1):c.40C>T (p.Arg14Cys) GRCh37: Chr11:2466368 GRCh38: Chr11:2445138	KCNQ1	R14C	not provided	not provided	no assertion provided
Select item 80496946.	NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) GRCh37: Chr11:2466369 GRCh38: Chr11:2445139	KCNQ1	R14L	Cardiovascular phenotype, Long QT syndrome 1, Long QT syndrome, Short QT syndrome type 2, Atrial fibrillation, familial, 3, Beckwith-Wiedemann syndrome, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, not provided, Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation, familial, 3Short QT syndrome type 2, ...see more	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134626147.	NM_000218.3(KCNQ1):c.45G>T (p.Trp15Cys) GRCh37: Chr11:2466373 GRCh38: Chr11:2445143	KCNQ1	W15C	Long QT syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 66362348.	NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter) GRCh37: Chr11:2466379 GRCh38: Chr11:2445149	KCNQ1	W17*	Long QT syndrome	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 148912249.	NM_000218.3(KCNQ1):c.62C>T (p.Pro21Leu) GRCh37: Chr11:2466390 GRCh38: Chr11:2445160	KCNQ1	P21L	Long QT syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 242052750.	NM_000218.3(KCNQ1):c.64G>T (p.Gly22Cys) GRCh37: Chr11:2466392 GRCh38: Chr11:2445162	KCNQ1	G22C	Long QT syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 20086851.	NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) GRCh37: Chr11:2466392 GRCh38: Chr11:2445162	KCNQ1	G22R	Cardiovascular phenotype, not provided, Long QT syndrome	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30421552.	NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) GRCh37: Chr11:2466394 GRCh38: Chr11:2445164	KCNQ1		Familial atrial fibrillation, Congenital long QT syndrome, Jervell and Lange-Nielsen syndrome, Short QT syndrome, Long QT syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 211414253.	NM_000218.3(KCNQ1):c.68C>T (p.Ala23Val) GRCh37: Chr11:2466396 GRCh38: Chr11:2445166	KCNQ1	A23V	Long QT syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 94610554.	NM_000218.3(KCNQ1):c.70C>T (p.Arg24Trp) GRCh37: Chr11:2466398 GRCh38: Chr11:2445168	KCNQ1	R24W	Cardiovascular phenotype, Long QT syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68479555.	NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro) GRCh37: Chr11:2466402 GRCh38: Chr11:2445172	KCNQ1	R25P	Long QT syndrome, Conduction disorder of the heart	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 20086956.	NM_000218.3(KCNQ1):c.81C>A (p.Ser27Arg) GRCh37: Chr11:2466409 GRCh38: Chr11:2445179	KCNQ1	S27R	not provided	Uncertain significance (May 7, 2014)	criteria provided, single submitter
Select item 103631757.	NM_000218.3(KCNQ1):c.83C>G (p.Ala28Gly) GRCh37: Chr11:2466411 GRCh38: Chr11:2445181	KCNQ1	A28G	Long QT syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 207830758.	NM_000218.3(KCNQ1):c.85G>A (p.Gly29Ser) GRCh37: Chr11:2466413 GRCh38: Chr11:2445183	KCNQ1	G29S	Long QT syndrome	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 143609259.	NM_000218.3(KCNQ1):c.89T>C (p.Leu30Pro) GRCh37: Chr11:2466417 GRCh38: Chr11:2445187	KCNQ1	L30P	Long QT syndrome	Uncertain significance (Nov 17, 2021)	criteria provided, single submitter
Select item 52376960.	NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter) GRCh37: Chr11:2466422 GRCh38: Chr11:2445192	KCNQ1	K32*	not provided, Long QT syndrome	Pathogenic (Apr 2, 2018)	criteria provided, multiple submitters, no conflicts
Select item 194919061.	NM_000218.3(KCNQ1):c.99G>A (p.Lys33=) GRCh37: Chr11:2466427 GRCh38: Chr11:2445197	KCNQ1		Long QT syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 84037362.	NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu) GRCh37: Chr11:2466432 GRCh38: Chr11:2445202	KCNQ1	P35L	Long QT syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 209682463.	NM_000218.3(KCNQ1):c.105C>T (p.Pro35=) GRCh37: Chr11:2466433 GRCh38: Chr11:2445203	KCNQ1		Long QT syndrome	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 178603064.	NM_000218.3(KCNQ1):c.107dup (p.Ser37fs) GRCh37: Chr11:2466433-2466434 GRCh38: Chr11:2445203-2445204	KCNQ1	S37fs	Cardiovascular phenotype	Pathogenic (Apr 4, 2017)	criteria provided, single submitter
Select item 37801065.	NM_000218.3(KCNQ1):c.105C>A (p.Pro35=) GRCh37: Chr11:2466433 GRCh38: Chr11:2445203	KCNQ1		Cardiovascular phenotype, not provided, Long QT syndrome	Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158256466.	NM_000218.3(KCNQ1):c.111G>C (p.Ser37=) GRCh37: Chr11:2466439 GRCh38: Chr11:2445209	KCNQ1		Long QT syndrome	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 109601867.	NM_000218.3(KCNQ1):c.114G>C (p.Leu38=) GRCh37: Chr11:2466442 GRCh38: Chr11:2445212	KCNQ1		Long QT syndrome	Likely benign (Aug 25, 2019)	criteria provided, single submitter
Select item 57380468.	NM_000218.3(KCNQ1):c.114G>A (p.Leu38=) GRCh37: Chr11:2466442 GRCh38: Chr11:2445212	KCNQ1		Long QT syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 37545569.	NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter) GRCh37: Chr11:2466443 GRCh38: Chr11:2445213	KCNQ1	E39*	Jervell and Lange-Nielsen syndrome 1	Pathogenic (Jan 5, 2017)	no assertion criteria provided
Select item 70451870.	NM_000218.3(KCNQ1):c.123G>A (p.Ala41=) GRCh37: Chr11:2466451 GRCh38: Chr11:2445221	KCNQ1		Long QT syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 48869871.	NM_000218.3(KCNQ1):c.124G>T (p.Glu42Ter) GRCh37: Chr11:2466452 GRCh38: Chr11:2445222	KCNQ1	E42*	not provided	Likely pathogenic (Sep 6, 2017)	criteria provided, single submitter
Select item 37889472.	NM_000218.3(KCNQ1):c.129C>T (p.Gly43=) GRCh37: Chr11:2466457 GRCh38: Chr11:2445227	KCNQ1		not specified, Long QT syndrome	Likely benign (Jan 23, 2019)	criteria provided, multiple submitters, no conflicts
Select item 202176273.	NM_000218.3(KCNQ1):c.136_147dup (p.Ala49_Leu50insAlaGlyGlyAla) GRCh37: Chr11:2466461-2466462 GRCh38: Chr11:2445231-2445232	KCNQ1		Long QT syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 42065874.	NM_000218.3(KCNQ1):c.139_145dup (p.Ala49fs) GRCh37: Chr11:2466461-2466462 GRCh38: Chr11:2445231-2445232	KCNQ1	A49fs	not provided	Pathogenic (Jan 27, 2017)	criteria provided, single submitter
Select item 131297675.	NM_000218.3(KCNQ1):c.134C>G (p.Pro45Arg) GRCh37: Chr11:2466462 GRCh38: Chr11:2445232	KCNQ1	P45R	not provided, Long QT syndrome	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5298276.	NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) GRCh37: Chr11:2466464 GRCh38: Chr11:2445234	KCNQ1	A46T	Cardiovascular phenotype, Atrial fibrillation, familial, 3, Long QT syndrome 1, Jervell and Lange-Nielsen syndrome 1, Beckwith-Wiedemann syndrome, Short QT syndrome type 2, not provided, not specified, Long QT syndrome, Long QT syndrome 1	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144449677.	NM_000218.3(KCNQ1):c.137C>A (p.Ala46Glu) GRCh37: Chr11:2466465 GRCh38: Chr11:2445235	KCNQ1	A46E	Long QT syndrome	Uncertain significance (Nov 14, 2021)	criteria provided, single submitter
Select item 41328378.	NM_000218.3(KCNQ1):c.144C>G (p.Gly48=) GRCh37: Chr11:2466472 GRCh38: Chr11:2445242	KCNQ1		Long QT syndrome	Likely benign (Apr 15, 2016)	criteria provided, single submitter
Select item 166644679.	NM_000218.3(KCNQ1):c.147G>T (p.Ala49=) GRCh37: Chr11:2466475 GRCh38: Chr11:2445245	KCNQ1		Long QT syndrome	Likely benign (Jul 3, 2021)	criteria provided, single submitter
Select item 5298780.	NM_000218.3(KCNQ1):c.151dup (p.Tyr51fs) GRCh37: Chr11:2466478-2466479 GRCh38: Chr11:2445248-2445249	KCNQ1	Y51fs	Long QT syndrome 1	not provided	no assertion provided
Select item 177789281.	NM_000218.3(KCNQ1):c.160ATCGCGCCC[3] (p.Pro56_Gly57insIleAlaProIleAlaPro) GRCh37: Chr11:2466480-2466481 GRCh38: Chr11:2445250-2445251	KCNQ1		Cardiovascular phenotype	Uncertain significance (Sep 13, 2021)	criteria provided, single submitter
Select item 177458282.	NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys) GRCh37: Chr11:2466480 GRCh38: Chr11:2445250	KCNQ1	Y51C	Long QT syndrome, Cardiovascular phenotype	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 4248783.	NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) GRCh37: Chr11:2466480-2466481 GRCh38: Chr11:2445250-2445251	KCNQ1		Cardiovascular phenotype, Ventricular fibrillation, not specified, not provided, Long QT syndrome	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 93316884.	NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter) GRCh37: Chr11:2466481 GRCh38: Chr11:2445251	KCNQ1	Y51*	Cardiac arrhythmia, Long QT syndrome	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5298985.	NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) GRCh37: Chr11:2466481 GRCh38: Chr11:2445251	KCNQ1	Y51*	not provided, Cardiovascular phenotype, Cardiac arrhythmia, Long QT syndrome	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107280186.	NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs) GRCh37: Chr11:2466482-2466497 GRCh38: Chr11:2445252-2445267	KCNQ1	I54fs	Long QT syndrome	Pathogenic (Oct 1, 2020)	criteria provided, single submitter
Select item 37900187.	NM_000218.3(KCNQ1):c.159C>T (p.Pro53=) GRCh37: Chr11:2466487 GRCh38: Chr11:2445257	KCNQ1		Long QT syndrome, Cardiovascular phenotype, not provided	Likely benign (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120931188.	NM_000218.3(KCNQ1):c.160_161insATCGCGCCC (p.Ile54delinsAsnArgAlaLeu) GRCh37: Chr11:2466488-2466489 GRCh38: Chr11:2445258-2445259	KCNQ1		not provided	Likely benign (Mar 3, 2015)	criteria provided, single submitter
Select item 20088989.	NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) GRCh37: Chr11:2466490-2466512 GRCh38: Chr11:2445260-2445282	KCNQ1	G57fs	Cardiac arrhythmia, Long QT syndrome	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116197390.	NM_000218.3(KCNQ1):c.165G>T (p.Ala55=) GRCh37: Chr11:2466493 GRCh38: Chr11:2445263	KCNQ1		Long QT syndrome	Likely benign (Jul 4, 2021)	criteria provided, single submitter
Select item 120354891.	NM_000218.3(KCNQ1):c.168C>T (p.Pro56=) GRCh37: Chr11:2466496 GRCh38: Chr11:2445266	KCNQ1		not provided	Likely benign (Jun 27, 2019)	criteria provided, single submitter
Select item 109474992.	NM_000218.3(KCNQ1):c.168C>G (p.Pro56=) GRCh37: Chr11:2466496 GRCh38: Chr11:2445266	KCNQ1		Long QT syndrome	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 121646993.	NM_000218.3(KCNQ1):c.169_170insATCGCGCCC (p.Gly57delinsAspArgAlaArg) GRCh37: Chr11:2466497-2466498 GRCh38: Chr11:2445267-2445268	KCNQ1		not provided	Likely benign (Mar 3, 2015)	criteria provided, single submitter
Select item 105700494.	NM_000218.3(KCNQ1):c.170G>A (p.Gly57Asp) GRCh37: Chr11:2466498 GRCh38: Chr11:2445268	KCNQ1	G57D	Long QT syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 6705195.	NM_000218.3(KCNQ1):c.170G>T (p.Gly57Val) GRCh37: Chr11:2466498 GRCh38: Chr11:2445268	KCNQ1	G57V	Congenital long QT syndrome	not provided	no assertion provided
Select item 177895596.	NM_000218.3(KCNQ1):c.172G>A (p.Ala58Thr) GRCh37: Chr11:2466500 GRCh38: Chr11:2445270	KCNQ1	A58T	Cardiovascular phenotype	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 63522197.	NM_000218.3(KCNQ1):c.176del (p.Pro59fs) GRCh37: Chr11:2466501 GRCh38: Chr11:2445271	KCNQ1	P59fs	not provided	Pathogenic (Aug 16, 2011)	no assertion criteria provided
Select item 177936698.	NM_000218.3(KCNQ1):c.174C>T (p.Ala58=) GRCh37: Chr11:2466502 GRCh38: Chr11:2445272	KCNQ1		Cardiovascular phenotype	Likely benign (Jan 7, 2019)	criteria provided, single submitter
Select item 51887799.	NM_000218.3(KCNQ1):c.175C>G (p.Pro59Ala) GRCh37: Chr11:2466503 GRCh38: Chr11:2445273	KCNQ1	P59A	Cardiovascular phenotype	Uncertain significance (Nov 27, 2017)	criteria provided, single submitter
Select item 745522100.	NM_000218.3(KCNQ1):c.177A>G (p.Pro59=) GRCh37: Chr11:2466505 GRCh38: Chr11:2445275	KCNQ1		Cardiovascular phenotype, Long QT syndrome	Likely benign (Dec 5, 2019)	criteria provided, multiple submitters, no conflicts

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